Variant report
Variant | nsv818451 |
---|---|
Chromosome Location | chr6:114597657-115471129 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2797)
- CpG islands (count:1708)
- Chromatin interactive region (count:81)
- LncRNA region (count:67)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr6:114719700-114720055 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr6:114697785-114698182 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr6:115069216-115069286 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr6:114622944-114623453 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr6:114664772-114664961 | HepG2 | liver: | n/a | n/a |
6 | ATF2 | chr6:114684060-114684545 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ATF2 | chr6:114742286-114742964 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | ATF2 | chr6:115310647-115311219 | GM12878 | blood: | n/a | n/a |
9 | ATF2 | chr6:115036232-115036736 | GM12878 | blood: | n/a | n/a |
10 | ATF2 | chr6:115036073-115036699 | GM12878 | blood: | n/a | n/a |
11 | ATF2 | chr6:115034708-115035245 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr6:115310603-115311225 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr6:114662411-114662844 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | ATF2 | chr6:114725720-114726354 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | ATF2 | chr6:114742313-114742815 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | ATF2 | chr6:114740396-114740716 | GM12878 | blood: | n/a | n/a |
17 | ATF2 | chr6:115318882-115319498 | GM12878 | blood: | n/a | n/a |
18 | ATF2 | chr6:115034681-115035304 | GM12878 | blood: | n/a | n/a |
19 | ATF2 | chr6:114740228-114740801 | GM12878 | blood: | n/a | n/a |
20 | ATF2 | chr6:114684024-114684508 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | ATF2 | chr6:115318916-115319307 | GM12878 | blood: | n/a | n/a |
22 | ATF3 | chr6:115104340-115104551 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BACH1 | chr6:115370922-115371066 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | BACH1 | chr6:114682017-114682038 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | BACH1 | chr6:114648362-114648575 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | BACH1 | chr6:114663394-114664060 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | BACH1 | chr6:114664491-114665091 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr6:114648043-114648243 | K562 | blood: | n/a | n/a |
29 | BACH1 | chr6:115104329-115104590 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | BACH1 | chr6:114684132-114684582 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | BATF | chr6:115034743-115035142 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr6:115310776-115311110 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr6:115036267-115036600 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr6:115318920-115319435 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr6:114740282-114740635 | GM12878 | blood: | n/a | chr6:114740550-114740558 |
36 | BATF | chr6:115322942-115323327 | GM12878 | blood: | n/a | chr6:115323148-115323159 |
37 | BATF | chr6:115034676-115035181 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr6:114634184-114634395 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr6:115033324-115033673 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr6:115322851-115323504 | GM12878 | blood: | n/a | chr6:115323148-115323159 |
41 | BATF | chr6:114740453-114740646 | GM12878 | blood: | n/a | chr6:114740550-114740558 |
42 | BATF | chr6:115036215-115036648 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr6:115318922-115319346 | GM12878 | blood: | n/a | n/a |
44 | BCL11A | chr6:115036229-115036600 | GM12878 | blood: | n/a | chr6:115036446-115036455 chr6:115036259-115036266 chr6:115036468-115036477 |
45 | BCL11A | chr6:115262342-115262520 | H1-hESC | embryonic stem cell: | n/a | n/a |
46 | BCL11A | chr6:115385854-115386115 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr6:115318968-115319208 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr6:115310734-115311115 | GM12878 | blood: | n/a | n/a |
49 | BCL11A | chr6:115034824-115035197 | GM12878 | blood: | n/a | n/a |
50 | BCL11A | chr6:114740306-114740650 | GM12878 | blood: | n/a | chr6:114740537-114740546 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:115186624-115186674 | CMK | blood: | n/a |
2 | chr6:114618460-114618510 | NT2-D1 | testis: | n/a |
3 | chr6:114891274-114891324 | AG04450 | lung: | fetal |
4 | chr6:115186908-115186958 | SKMC | muscle: | n/a |
5 | chr6:114815726-114815776 | SKMC | muscle: | n/a |
6 | chr6:114741679-114741729 | ovcar-3 | ovarian: | n/a |
7 | chr6:114664754-114664804 | HIPEpiC | eye: | n/a |
8 | chr6:114844832-114844882 | HMEC | breast: | n/a |
9 | chr6:114663139-114663189 | AG04450 | lung: | fetal |
10 | chr6:114707054-114707104 | HRE | kidney: | n/a |
11 | chr6:115186908-115186958 | SK-N-MC | brain: | n/a |
12 | chr6:115186624-115186674 | HCM | heart: | n/a |
13 | chr6:114751873-114751923 | MCF10A-Er-Src | breast: | n/a |
14 | chr6:114663139-114663189 | HCT-116 | colon: | n/a |
15 | chr6:114898257-114898307 | HCPEpiC | choroid plexus: | n/a |
16 | chr6:114741679-114741729 | GM12878 | blood: | n/a |
17 | chr6:114751873-114751923 | HCF | heart: | n/a |
18 | chr6:114662739-114662789 | GM12878 | blood: | n/a |
19 | chr6:115186624-115186674 | AG10803 | skin: | n/a |
20 | chr6:114697971-114698021 | CMK | blood: | n/a |
21 | chr6:114661277-114661327 | AG04449 | skin: | fetal |
22 | chr6:114898257-114898307 | ProgFib | skin: | n/a |
23 | chr6:114725242-114725292 | HepG2 | liver: | n/a |
24 | chr6:114663692-114663742 | ProgFib | skin: | n/a |
25 | chr6:114751873-114751923 | HL-60 | blood: | n/a |
26 | chr6:114662458-114662508 | NT2-D1 | testis: | n/a |
27 | chr6:114663564-114663614 | H1-hESC | embryonic stem cell: | embryo |
28 | chr6:114663139-114663189 | HAEpiC | amniotic membrane: | n/a |
29 | chr6:114664754-114664804 | HNPCEpiC | eye: | n/a |
30 | chr6:114644187-114644237 | NH-A | brain: | n/a |
31 | chr6:114618460-114618510 | SK-N-MC | brain: | n/a |
32 | chr6:114707054-114707104 | HRCEpiC | kidney: | n/a |
33 | chr6:114891274-114891324 | BE2_C | brain: | n/a |
34 | chr6:114663692-114663742 | HL-60 | blood: | n/a |
35 | chr6:114661277-114661327 | HL-60 | blood: | n/a |
36 | chr6:114650610-114650660 | HMEC | breast: | n/a |
37 | chr6:114662458-114662508 | HL-60 | blood: | n/a |
38 | chr6:114663570-114663620 | HUVEC | blood vessel: | n/a |
39 | chr6:114644187-114644237 | H1-hESC | embryonic stem cell: | embryo |
40 | chr6:114662739-114662789 | PFSK-1 | brain: | n/a |
41 | chr6:114664843-114664893 | AG09309 | skin: | n/a |
42 | chr6:114751873-114751923 | T-47D | breast: | n/a |
43 | chr6:114662697-114662747 | AG09309 | skin: | n/a |
44 | chr6:114891274-114891324 | HepG2 | liver: | n/a |
45 | chr6:114663564-114663614 | HPAEpiC | pulmonary alveolar: | n/a |
46 | chr6:114741679-114741729 | MCF10A-Er-Src | breast: | n/a |
47 | chr6:114665013-114665063 | U87 | brain: | n/a |
48 | chr6:114662739-114662789 | HPAEpiC | pulmonary alveolar: | n/a |
49 | chr6:114898257-114898307 | NHDF-neo | bronchial: | n/a |
50 | chr6:114844832-114844882 | Jurkat | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:115156152..115158864-chr6:115162515..115164962,2 | K562 | blood: | |
2 | chr6:114662119..114667220-chr6:114669334..114673077,6 | MCF-7 | breast: | |
3 | chr6:115464259..115466122-chr6:115467900..115470572,2 | K562 | blood: | |
4 | chr6:114663102..114665559-chr6:115006169..115008333,2 | MCF-7 | breast: | |
5 | chr6:114662992..114664998-chr6:114748035..114750370,2 | MCF-7 | breast: | |
6 | chr20:52825165..52826866-chr6:115066329..115069326,2 | MCF-7 | breast: | |
7 | chr6:115069108..115069650-chr6:116217423..116218405,2 | MCF-7 | breast: | |
8 | chr6:114983151..114986089-chr6:114986914..114989213,2 | K562 | blood: | |
9 | chr6:114919212..114921990-chr6:114922812..114925771,2 | K562 | blood: | |
10 | chr6:114663101..114665339-chr6:114863866..114866852,2 | MCF-7 | breast: | |
11 | chr6:114810855..114812867-chr6:114817060..114819585,2 | K562 | blood: | |
12 | chr6:114662119..114667220-chr6:114669334..114673077,6 | MCF-7 | breast: | |
13 | chr6:115140903..115143302-chr6:115155518..115157030,2 | MCF-7 | breast: | |
14 | chr6:115022160..115024692-chr6:115025549..115027763,2 | K562 | blood: | |
15 | chr6:114716541..114719212-chr6:114721790..114724337,2 | MCF-7 | breast: | |
16 | chr6:114942645..114945445-chr6:114947272..114949668,2 | K562 | blood: | |
17 | chr6:114649750..114652393-chr6:114660121..114661764,2 | MCF-7 | breast: | |
18 | chr6:115024513..115027327-chr6:115031365..115032903,2 | MCF-7 | breast: | |
19 | chr6:114655643..114657954-chr6:114659786..114662441,2 | MCF-7 | breast: | |
20 | chr6:114684479..114687440-chr6:114692233..114694827,2 | MCF-7 | breast: | |
21 | chr6:114417733..114418278-chr6:114664810..114665478,2 | MCF-7 | breast: | |
22 | chr6:114699357..114700992-chr6:114703215..114705730,2 | K562 | blood: | |
23 | chr6:114937519..114939920-chr6:114943171..114945017,2 | MCF-7 | breast: | |
24 | chr6:115465579..115468359-chr6:115468931..115471034,2 | MCF-7 | breast: | |
25 | chr6:115456456..115458664-chr6:115462718..115465273,2 | K562 | blood: | |
26 | chr6:114716541..114719212-chr6:114721790..114724337,2 | MCF-7 | breast: | |
27 | chr6:114942645..114945445-chr6:114947272..114949668,2 | K562 | blood: | |
28 | chr6:115425618..115427321-chr6:115430585..115433351,2 | K562 | blood: | |
29 | chr6:114886429..114888208-chr6:114888980..114890992,2 | MCF-7 | breast: | |
30 | chr6:114983151..114986089-chr6:114986914..114989213,2 | K562 | blood: | |
31 | chr6:114886429..114888208-chr6:114888980..114890992,2 | MCF-7 | breast: | |
32 | chr6:114649750..114652393-chr6:114660121..114661764,2 | MCF-7 | breast: | |
33 | chr6:115156152..115160135-chr6:115161236..115164962,3 | K562 | blood: | |
34 | chr6:115022160..115024692-chr6:115025549..115027763,2 | K562 | blood: | |
35 | chr6:114290761..114292353-chr6:114629817..114632002,2 | MCF-7 | breast: | |
36 | chr6:114653028..114655061-chr6:114658099..114660721,2 | MCF-7 | breast: | |
37 | chr6:114655643..114657954-chr6:114659786..114662441,2 | MCF-7 | breast: | |
38 | chr6:115071084..115073311-chr6:115074657..115076338,2 | K562 | blood: | |
39 | chr6:115156152..115160135-chr6:115161236..115164962,3 | K562 | blood: | |
40 | chr2:35359597..35360193-chr6:115017299..115018148,2 | MCF-7 | breast: | |
41 | chr6:115069181..115071252-chr6:115081748..115083641,2 | MCF-7 | breast: | |
42 | chr6:115199965..115201575-chr6:115207287..115210260,2 | MCF-7 | breast: | |
43 | chr6:115286566..115289253-chr6:115300966..115302746,2 | K562 | blood: | |
44 | chr6:114653028..114655061-chr6:114658099..114660721,2 | MCF-7 | breast: | |
45 | chr6:114290903..114293553-chr6:114664243..114666092,2 | MCF-7 | breast: | |
46 | chr6:114937519..114939920-chr6:114943171..114945017,2 | MCF-7 | breast: | |
47 | chr6:114490498..114491435-chr6:114625509..114626136,2 | MCF-7 | breast: | |
48 | chr6:115071084..115073311-chr6:115074657..115076338,2 | K562 | blood: | |
49 | chr6:114398386..114401210-chr6:114639151..114641476,2 | MCF-7 | breast: | |
50 | chr6:115367123..115369698-chr6:115372430..115374297,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-HS3ST5-2 | chr6:114844615-114844856 | XLOC_005813 |
2 | lnc-NT5DC1-4 | chr6:115322754-115323156 | XLOC_005442 |
3 | lnc-HS3ST5-1 | chr6:114809752-114809845 | XLOC_005812 |
4 | lnc-MARCKS-5 | chr6:114777021-114777853 | NONHSAT114614 |
5 | lnc-HS3ST5-1 | chr6:114809752-114809916 | XLOC_005812 |
6 | lnc-HS3ST5-1 | chr6:114798514-114798670 | XLOC_005812 |
7 | lnc-NT5DC1-4 | chr6:115319220-115319583 | NONHSAT114627 |
8 | lnc-MARCKS-5 | chr6:114661686-114661902 | ENSG00000228624 |
9 | lnc-MARCKS-19 | chr6:114834500-114840824 | l_3241_chr6:114823058-114843229_76bGuttman_hES |
10 | lnc-MARCKS-5 | chr6:114789659-114789738 | ENSG00000228624 |
11 | lnc-HS3ST5-2 | chr6:114864957-114865085 | XLOC_005813 |
12 | lnc-MARCKS-5 | chr6:114790310-114790463 | ENSG00000228624 |
13 | lnc-MARCKS-5 | chr6:114777021-114777798 | ENSG00000228624 |
14 | lnc-MARCKS-19 | chr6:114823059-114823138 | l_3241_chr6:114823058-114843229_76bGuttman_hES |
15 | lnc-HS3ST5-8 | chr6:114916445-114916538 | NONHSAT114622 |
16 | lnc-HS3ST5-2 | chr6:114844608-114844856 | XLOC_005813 |
17 | lnc-NT5DC1-4 | chr6:115322753-115323447 | NONHSAT114627 |
18 | lnc-MARCKS-5 | chr6:114792579-114792869 | ENSG00000228624 |
19 | lnc-HS3ST5-7 | chr6:114744178-114745122 | NONHSAT114610 |
20 | lnc-HS3ST5-3 | chr6:114670647-114671812 | NONHSAT114609 |
21 | lnc-MARCKS-5 | chr6:114775079-114775243 | XLOC_005441 |
22 | lnc-MARCKS-5 | chr6:114770131-114770195 | ENSG00000228624 |
23 | lnc-HS3ST5-9 | chr6:114971650-114971778 | l_3243_chr6:114951300-114973176_testes |
24 | lnc-MARCKS-5 | chr6:114602976-114603172 | ENSG00000228624 |
25 | lnc-HS3ST5-2 | chr6:114866408-114866452 | NONHSAT114621 |
26 | lnc-HS3ST5-9 | chr6:114951301-114951426 | l_3243_chr6:114951300-114973176_testes |
27 | lnc-MARCKS-5 | chr6:114663487-114663628 | NONHSAT114607 |
28 | lnc-MARCKS-5 | chr6:114770124-114770195 | ENSG00000228624 |
29 | lnc-HS3ST5-2 | chr6:114856880-114857039 | XLOC_005813 |
30 | lnc-MARCKS-5 | chr6:114770080-114770195 | NONHSAT114614 |
31 | lnc-MARCKS-5 | chr6:114657998-114658203 | NONHSAT114607 |
32 | lnc-HS3ST5-2 | chr6:114866408-114866483 | XLOC_005813 |
33 | lnc-MARCKS-5 | chr6:114661686-114661779 | ENSG00000228624 |
34 | lnc-MARCKS-19 | chr6:114840834-114843229 | l_3241_chr6:114823058-114843229_76bGuttman_hES |
35 | lnc-HS3ST5-2 | chr6:114866407-114866483 | NONHSAT114618 |
36 | lnc-MARCKS-5 | chr6:114692756-114692850 | NONHSAT114608 |
37 | lnc-MARCKS-5 | chr6:114770131-114770195 | ENSG00000228624 |
38 | lnc-HS3ST5-7 | chr6:114776942-114777358 | NONHSAT114610 |
39 | lnc-HS3ST5-2 | chr6:114866408-114866452 | NONHSAT114617 |
40 | lnc-HS3ST5-9 | chr6:114951429-114951549 | l_3243_chr6:114951300-114973176_testes |
41 | lnc-HS3ST5-8 | chr6:114909282-114909902 | NONHSAT114623 |
42 | lnc-HS3ST5-9 | chr6:114963573-114963732 | NONHSAT114624 |
43 | lnc-HS3ST5-7 | chr6:114730053-114731474 | NONHSAT114610 |
44 | lnc-MARCKS-5 | chr6:114759133-114759230 | ENSG00000228624 |
45 | lnc-HS3ST5-2 | chr6:114844607-114844856 | NONHSAT114618 |
46 | lnc-MARCKS-5 | chr6:114736744-114736776 | XLOC_005441 |
47 | lnc-HS3ST5-9 | chr6:114951308-114951549 | NONHSAT114624 |
48 | lnc-MARCKS-5 | chr6:114770131-114770195 | XLOC_005441 |
49 | lnc-MARCKS-5 | chr6:114736766-114736776 | XLOC_005441 |
50 | lnc-MARCKS-5 | chr6:114727807-114727832 | ENSG00000228624 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000228624 | TF binding region |
DNAJA1P4 | TF binding region |
RNU6-475P | TF binding region |
ENSG00000232395 | TF binding region |
ENSG00000221599 | TF binding region |
HS3ST5 | TF binding region |
ENSG00000226079 | TF binding region |
ENSG00000228624 | CpG island |
DNAJA1P4 | CpG island |
RNU6-475P | CpG island |
ENSG00000232395 | CpG island |
ENSG00000221599 | CpG island |
HS3ST5 | CpG island |
ENSG00000226079 | CpG island |
ENSG00000249853 | chromatin interactions |
ENSG00000218089 | chromatin interactions |
ENSG00000196591 | chromatin interactions |
ENSG00000228624 | chromatin interactions |
YARS2 | miRNA target sites |
THBS1 | miRNA target sites |
WWC2 | miRNA target sites |
HN1L | miRNA target sites |
HMGN2 | miRNA target sites |
UBE2D3 | miRNA target sites |
NTRK3 | miRNA target sites |
AHNAK2 | miRNA target sites |
ZC3HAV1 | miRNA target sites |
MXI1 | miRNA target sites |
ARPP19 | miRNA target sites |
CHRAC1 | miRNA target sites |
TMEM41A | miRNA target sites |
TP53 | miRNA target sites |
TLK1 | miRNA target sites |
ZNF638 | miRNA target sites |
MED28 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs785126 | chr6:114597657-114597658 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs575324883 | chr6:114597687-114597688 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs545850921 | chr6:114597700-114597701 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs557833193 | chr6:114597712-114597713 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs201519609 | chr6:114597775-114597776 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs145697582 | chr6:114597782-114597783 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs397820873 | chr6:114597786-114597787 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs377461441 | chr6:114597787-114597788 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs572875404 | chr6:114597840-114597841 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs188305270 | chr6:114597885-114597886 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs191667803 | chr6:114597921-114597922 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs575653492 | chr6:114598001-114598002 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs72956220 | chr6:114598058-114598059 | Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs370204367 | chr6:114598064-114598065 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs529974772 | chr6:114598073-114598074 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs117617085 | chr6:114598091-114598092 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs564339369 | chr6:114598103-114598104 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs17076012 | chr6:114598114-114598115 | Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs552270922 | chr6:114598178-114598179 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs183880759 | chr6:114598189-114598190 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs116880770 | chr6:114598210-114598211 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs541668811 | chr6:114598306-114598307 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs796768 | chr6:114598314-114598315 | Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs118094220 | chr6:114598330-114598331 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs375990080 | chr6:114598379-114598380 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs529236960 | chr6:114598380-114598381 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs535812314 | chr6:114598489-114598490 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs368347896 | chr6:114598500-114598501 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs186910826 | chr6:114598550-114598551 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs191377172 | chr6:114598554-114598555 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs539667070 | chr6:114598623-114598624 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs557798136 | chr6:114598628-114598629 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs72956225 | chr6:114598672-114598673 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs529434347 | chr6:114598692-114598693 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs555527414 | chr6:114598710-114598711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs7453897 | chr6:114598726-114598727 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs554972282 | chr6:114598729-114598730 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs114484881 | chr6:114598764-114598765 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs563349222 | chr6:114598796-114598797 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs541721549 | chr6:114598872-114598873 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs530541179 | chr6:114598908-114598909 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs12665133 | chr6:114598929-114598930 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs55789587 | chr6:114598941-114598942 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs570334972 | chr6:114598966-114598967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs185836029 | chr6:114598978-114598979 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs1337328 | chr6:114598993-114598994 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs190361678 | chr6:114599002-114599003 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs546565389 | chr6:114599024-114599025 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs561485255 | chr6:114599025-114599026 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs528884507 | chr6:114599037-114599038 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Autism | 22495311 | CNVD |
Gastric cancer | 17908304 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Prostate cancer | 18632612 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Glioma | 21046410 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
Developmental delay | 19490664 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21785460 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16461572 | CNVD |
Neurocytoma | 17123091 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 21364760 | CNVD |
Chordoma | 21602918 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Systemic lupus erythematosus | 19220326 | CNVD |
Cancer | 17160897 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Acute lymphoblastic leukemia | 17229543 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17133270 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Mental retardation | 17621639 | CNVD |
Hypoplastic | 20877625 | CNVD |
Hypotonia | 20877625 | CNVD |
Mental retardation | 20877625 | CNVD |
Microcephaly | 20877625 | CNVD |
brachycephaly | 20877625 | CNVD |
epicanthic folds | 20877625 | CNVD |
micrognathia | 20877625 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 21804112 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Metastatic melanoma | 18483359 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Acute myeloid leukemia | 19651600 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Cancer | 20164919 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:114577000-114603000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr6:114591400-114602600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
3 | chr6:114594400-114598200 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
4 | chr6:114596200-114598000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
5 | chr6:114596200-114608400 | Weak transcription | HepG2 | liver |
6 | chr6:114596800-114600200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
7 | chr6:114598000-114598200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
8 | chr6:114598000-114599000 | Enhancers | Hela-S3 | cervix |
9 | chr6:114598000-114599200 | Enhancers | Brain Angular Gyrus | brain |
10 | chr6:114598000-114600200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
11 | chr6:114598000-114600400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
12 | chr6:114598000-114600400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
13 | chr6:114598000-114600400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
14 | chr6:114598000-114605200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
15 | chr6:114598200-114599200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
16 | chr6:114598800-114599600 | Enhancers | Brain Anterior Caudate | brain |
17 | chr6:114598800-114600000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
18 | chr6:114599000-114599600 | Enhancers | Brain Hippocampus Middle | brain |
19 | chr6:114599000-114600200 | Enhancers | H1 Cell Line | embryonic stem cell |
20 | chr6:114599000-114600200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
21 | chr6:114599200-114599600 | Enhancers | H9 Cell Line | embryonic stem cell |
22 | chr6:114599200-114599600 | Enhancers | Brain Inferior Temporal Lobe | brain |
23 | chr6:114599200-114599600 | Enhancers | Brain Substantia Nigra | brain |
24 | chr6:114599200-114600200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
25 | chr6:114599200-114602400 | Weak transcription | Brain Angular Gyrus | brain |
26 | chr6:114599600-114600000 | Weak transcription | H9 Cell Line | embryonic stem cell |
27 | chr6:114599600-114600000 | Weak transcription | Brain Anterior Caudate | brain |
28 | chr6:114599600-114600000 | Weak transcription | Brain Hippocampus Middle | brain |
29 | chr6:114599600-114600000 | Weak transcription | Brain Inferior Temporal Lobe | brain |
30 | chr6:114599600-114600000 | Weak transcription | Brain Substantia Nigra | brain |
31 | chr6:114599800-114600000 | Enhancers | Brain Cingulate Gyrus | brain |
32 | chr6:114600000-114600200 | Enhancers | H9 Cell Line | embryonic stem cell |
33 | chr6:114600000-114600200 | Enhancers | Brain Anterior Caudate | brain |
34 | chr6:114600000-114600200 | Enhancers | Brain Hippocampus Middle | brain |
35 | chr6:114600000-114600200 | Enhancers | Brain Inferior Temporal Lobe | brain |
36 | chr6:114600000-114600200 | Enhancers | Brain Substantia Nigra | brain |
37 | chr6:114600000-114600200 | Enhancers | Fetal Lung | lung |
38 | chr6:114600000-114602200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
39 | chr6:114600000-114603000 | Enhancers | Fetal Brain Male | brain |
40 | chr6:114600200-114600400 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
41 | chr6:114600200-114600600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
42 | chr6:114600200-114601400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
43 | chr6:114600200-114601400 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
44 | chr6:114600200-114601600 | Weak transcription | H1 Cell Line | embryonic stem cell |
45 | chr6:114600200-114601800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
46 | chr6:114600200-114602000 | Weak transcription | Brain Anterior Caudate | brain |
47 | chr6:114600200-114602000 | Weak transcription | Brain Hippocampus Middle | brain |
48 | chr6:114600200-114602400 | Weak transcription | Brain Substantia Nigra | brain |
49 | chr6:114600200-114602600 | Weak transcription | H9 Cell Line | embryonic stem cell |
50 | chr6:114600200-114602600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |