Variant report
Variant | nsv1025251 |
---|---|
Chromosome Location | chr8:10343591-10488557 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1758)
- CpG islands (count:3481)
- Chromatin interactive region (count:80)
- LncRNA region (count:16)
- Mature miRNA region (count: 0)
- miRNA target sites (count:1)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr8:10405474-10405807 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr8:10447611-10447953 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr8:10427682-10427985 | HepG2 | liver: | n/a | n/a |
4 | ATF1 | chr8:10444813-10445139 | K562 | blood: | n/a | n/a |
5 | ATF2 | chr8:10457445-10457741 | GM12878 | blood: | n/a | n/a |
6 | ATF2 | chr8:10368591-10369254 | GM12878 | blood: | n/a | n/a |
7 | ATF2 | chr8:10368656-10369306 | GM12878 | blood: | n/a | n/a |
8 | ATF2 | chr8:10447639-10447994 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | ATF3 | chr8:10427612-10428118 | HepG2 | liver: | n/a | n/a |
10 | BACH1 | chr8:10463837-10463935 | K562 | blood: | n/a | n/a |
11 | BACH1 | chr8:10451658-10451951 | H1-hESC | embryonic stem cell: | n/a | chr8:10451825-10451839 |
12 | BACH1 | chr8:10456109-10456216 | H1-hESC | embryonic stem cell: | n/a | chr8:10456149-10456163 |
13 | BACH1 | chr8:10405643-10405858 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BATF | chr8:10368885-10369192 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr8:10386050-10386295 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr8:10386055-10386371 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr8:10368641-10369256 | GM12878 | blood: | n/a | n/a |
18 | BCL11A | chr8:10368645-10369160 | GM12878 | blood: | n/a | n/a |
19 | BCL3 | chr8:10457372-10457725 | GM12878 | blood: | n/a | chr8:10457621-10457630 |
20 | BCL3 | chr8:10434745-10434923 | GM12878 | blood: | n/a | n/a |
21 | BCL3 | chr8:10423196-10423691 | GM12878 | blood: | n/a | n/a |
22 | BCL3 | chr8:10457393-10457721 | GM12878 | blood: | n/a | chr8:10457621-10457630 |
23 | BCL3 | chr8:10488502-10489153 | GM12878 | blood: | n/a | n/a |
24 | BCL3 | chr8:10368667-10369188 | GM12878 | blood: | n/a | n/a |
25 | BCL3 | chr8:10423205-10423577 | GM12878 | blood: | n/a | n/a |
26 | BCL3 | chr8:10427512-10428071 | GM12878 | blood: | n/a | chr8:10427959-10427968 |
27 | BCL3 | chr8:10427552-10428070 | GM12878 | blood: | n/a | chr8:10427959-10427968 |
28 | BCLAF1 | chr8:10368711-10369356 | GM12878 | blood: | n/a | n/a |
29 | BCLAF1 | chr8:10367678-10368273 | GM12878 | blood: | n/a | n/a |
30 | BHLHE40 | chr8:10449911-10450127 | K562 | blood: | n/a | n/a |
31 | BHLHE40 | chr8:10447721-10448033 | K562 | blood: | n/a | n/a |
32 | BHLHE40 | chr8:10427647-10428164 | HepG2 | liver: | n/a | n/a |
33 | BHLHE40 | chr8:10368316-10369437 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr8:10457660-10457744 | GM12878 | blood: | n/a | n/a |
35 | BHLHE40 | chr8:10444830-10445103 | K562 | blood: | n/a | n/a |
36 | BHLHE40 | chr8:10386039-10386087 | GM12878 | blood: | n/a | n/a |
37 | BHLHE40 | chr8:10370616-10370942 | K562 | blood: | n/a | chr8:10370769-10370778 chr8:10370768-10370777 chr8:10370762-10370783 chr8:10370766-10370779 chr8:10370768-10370777 |
38 | BHLHE40 | chr8:10447648-10447914 | GM12878 | blood: | n/a | n/a |
39 | BHLHE40 | chr8:10405617-10405921 | K562 | blood: | n/a | n/a |
40 | BHLHE40 | chr8:10405645-10405893 | GM12878 | blood: | n/a | n/a |
41 | BRCA1 | chr8:10427806-10427887 | HepG2 | liver: | n/a | n/a |
42 | BRCA1 | chr8:10385147-10385231 | Hela-S3 | cervix: | n/a | n/a |
43 | CEBPB | chr8:10427679-10428252 | HepG2 | liver: | n/a | chr8:10427973-10427984 chr8:10427970-10427987 |
44 | CEBPB | chr8:10353239-10353251 | IMR90 | lung: | n/a | n/a |
45 | CEBPB | chr8:10453668-10453902 | K562 | blood: | n/a | n/a |
46 | CEBPB | chr8:10478242-10478343 | IMR90 | lung: | n/a | chr8:10478278-10478289 |
47 | CEBPB | chr8:10486646-10486713 | HepG2 | liver: | n/a | chr8:10486673-10486684 chr8:10486671-10486682 |
48 | CEBPB | chr8:10389562-10389696 | IMR90 | lung: | n/a | n/a |
49 | CEBPB | chr8:10380904-10381188 | A549 | lung: | n/a | n/a |
50 | CEBPB | chr8:10427816-10428079 | A549 | lung: | n/a | chr8:10427973-10427984 chr8:10427970-10427987 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:10466454-10466504 | GM12892 | blood: | n/a |
2 | chr8:10447472-10447522 | HepG2 | liver: | n/a |
3 | chr8:10469370-10469420 | RPTEC | kidney: | n/a |
4 | chr8:10386874-10386924 | U87 | brain: | n/a |
5 | chr8:10466454-10466504 | GM12892 | blood: | n/a |
6 | chr8:10447472-10447522 | HepG2 | liver: | n/a |
7 | chr8:10469370-10469420 | RPTEC | kidney: | n/a |
8 | chr8:10386874-10386924 | U87 | brain: | n/a |
9 | chr8:10383763-10383813 | ProgFib | skin: | n/a |
10 | chr8:10469310-10469360 | PANC-1 | pancreas: | n/a |
11 | chr8:10383071-10383121 | HNPCEpiC | eye: | n/a |
12 | chr8:10428285-10428335 | T-47D | breast: | n/a |
13 | chr8:10448863-10448913 | T-47D | breast: | n/a |
14 | chr8:10421582-10421632 | AG10803 | skin: | n/a |
15 | chr8:10470053-10470103 | HL-60 | blood: | n/a |
16 | chr8:10452854-10452904 | HCM | heart: | n/a |
17 | chr8:10480438-10480488 | LNCaP | prostate: | n/a |
18 | chr8:10454129-10454179 | SK-N-SH_RA | brain: | n/a |
19 | chr8:10454129-10454179 | HPAEpiC | pulmonary alveolar: | n/a |
20 | chr8:10454100-10454150 | NH-A | brain: | n/a |
21 | chr8:10483120-10483170 | LNCaP | prostate: | n/a |
22 | chr8:10470985-10471035 | HRE | kidney: | n/a |
23 | chr8:10466983-10467033 | HNPCEpiC | eye: | n/a |
24 | chr8:10483120-10483170 | K562 | blood: | n/a |
25 | chr8:10449096-10449146 | HL-60 | blood: | n/a |
26 | chr8:10421582-10421632 | Jurkat | blood: | n/a |
27 | chr8:10454129-10454179 | K562 | blood: | n/a |
28 | chr8:10470278-10470328 | MCF10A-Er-Src | breast: | n/a |
29 | chr8:10447472-10447522 | HCM | heart: | n/a |
30 | chr8:10469370-10469420 | AoSMC | blood vessel: | n/a |
31 | chr8:10480438-10480488 | MCF-7 | breast: | n/a |
32 | chr8:10383763-10383813 | HRCEpiC | kidney: | n/a |
33 | chr8:10480545-10480595 | T-47D | breast: | n/a |
34 | chr8:10447962-10448012 | BE2_C | brain: | n/a |
35 | chr8:10466983-10467033 | NHBE | bronchial: | n/a |
36 | chr8:10469370-10469420 | T-47D | breast: | n/a |
37 | chr8:10464160-10464210 | SK-N-MC | brain: | n/a |
38 | chr8:10386874-10386924 | PFSK-1 | brain: | n/a |
39 | chr8:10480438-10480488 | HRPEpiC | eye: | n/a |
40 | chr8:10460029-10460079 | H1-hESC | embryonic stem cell: | embryo |
41 | chr8:10386846-10386896 | GM12891 | blood: | n/a |
42 | chr8:10470790-10470840 | ECC-1 | luminal epithelium: | n/a |
43 | chr8:10466983-10467033 | Hepatocyte | liver: | n/a |
44 | chr8:10483120-10483170 | GM12891 | blood: | n/a |
45 | chr8:10447876-10447926 | AG09319 | gingival: | n/a |
46 | chr8:10383156-10383206 | HL-60 | blood: | n/a |
47 | chr8:10405250-10405300 | GM19239 | blood: | n/a |
48 | chr8:10470600-10470650 | HepG2 | liver: | n/a |
49 | chr8:10470600-10470650 | HPAEpiC | pulmonary alveolar: | n/a |
50 | chr8:10480545-10480595 | HUVEC | blood vessel: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:10403125..10404765-chr8:10411334..10413586,2 | K562 | blood: | |
2 | chr8:10448565..10449854-chr8:10682554..10683407,5 | K562 | blood: | |
3 | chr8:10447773..10448295-chr8:10656037..10656649,2 | MCF-7 | breast: | |
4 | chr8:10369277..10371186-chr8:10371806..10374192,2 | K562 | blood: | |
5 | chr8:10407992..10408718-chr8:10682226..10683074,2 | MCF-7 | breast: | |
6 | chr8:10451891..10453978-chr8:10460350..10462448,2 | K562 | blood: | |
7 | chr8:10437286..10440018-chr8:10695895..10698105,2 | K562 | blood: | |
8 | chr8:10412812..10415531-chr8:10671274..10673611,2 | K562 | blood: | |
9 | chr8:10447388..10448227-chr8:10671479..10672292,5 | MCF-7 | breast: | |
10 | chr8:10447366..10448118-chr8:10670992..10671978,2 | K562 | blood: | |
11 | chr8:9898731..9899394-chr8:10399301..10400191,2 | MCF-7 | breast: | |
12 | chr8:10374624..10377226-chr8:10381375..10383874,2 | K562 | blood: | |
13 | chr8:10402409..10405026-chr8:10406767..10409505,2 | K562 | blood: | |
14 | chr8:10442817..10445019-chr8:10695179..10696964,2 | MCF-7 | breast: | |
15 | chr8:10481194..10482903-chr8:10484662..10486783,2 | K562 | blood: | |
16 | chr8:10437716..10439367-chr8:10443929..10446771,2 | K562 | blood: | |
17 | chr8:10445268..10448079-chr8:10682577..10684280,3 | K562 | blood: | |
18 | chr8:10450511..10453354-chr8:10693058..10695560,2 | K562 | blood: | |
19 | chr8:10444549..10445532-chr8:10658177..10659296,3 | K562 | blood: | |
20 | chr8:10447015..10448532-chr8:10696136..10697603,15 | K562 | blood: | |
21 | chr8:10411613..10413470-chr8:10415012..10416901,2 | K562 | blood: | |
22 | chr8:10375020..10377779-chr8:10377890..10379584,2 | MCF-7 | breast: | |
23 | chr8:10446054..10448904-chr8:10503289..10505926,2 | K562 | blood: | |
24 | chr8:10437716..10439367-chr8:10443929..10446771,2 | K562 | blood: | |
25 | chr8:10447720..10448261-chr8:10675847..10676686,2 | K562 | blood: | |
26 | chr8:10405164..10407665-chr8:10409193..10412013,2 | K562 | blood: | |
27 | chr8:10483740..10486266-chr8:10497688..10499815,2 | MCF-7 | breast: | |
28 | chr8:10464134..10466751-chr8:10479070..10481412,2 | K562 | blood: | |
29 | chr8:10412614..10414725-chr8:10696805..10698747,2 | MCF-7 | breast: | |
30 | chr8:10405164..10407665-chr8:10409193..10412013,2 | K562 | blood: | |
31 | chr8:10369277..10371186-chr8:10371806..10374192,2 | K562 | blood: | |
32 | chr8:10447286..10448405-chr8:10682073..10684028,19 | K562 | blood: | |
33 | chr8:10447281..10448089-chr8:10696064..10697196,3 | MCF-7 | breast: | |
34 | chr17:57915711..57917705-chr8:10466490..10468325,2 | MCF-7 | breast: | |
35 | chr8:10421361..10423280-chr8:10424312..10426014,2 | MCF-7 | breast: | |
36 | chr8:10443749..10446739-chr8:10451129..10452843,2 | K562 | blood: | |
37 | chr8:10331191..10333383-chr8:10342162..10343803,2 | K562 | blood: | |
38 | chr8:10447717..10449945-chr8:10695392..10697388,2 | MCF-7 | breast: | |
39 | chr8:10451891..10453978-chr8:10460350..10462448,2 | K562 | blood: | |
40 | chr8:10447691..10448293-chr8:10586014..10586821,3 | MCF-7 | breast: | |
41 | chr8:10374624..10377226-chr8:10381375..10383874,2 | K562 | blood: | |
42 | chr8:10411613..10413470-chr8:10415012..10416901,2 | K562 | blood: | |
43 | chr8:10447312..10448291-chr8:10671241..10672318,3 | MCF-7 | breast: | |
44 | chr8:10425403..10427054-chr8:10442096..10444201,2 | K562 | blood: | |
45 | chr8:10447726..10448226-chr8:10680360..10680981,2 | K562 | blood: | |
46 | chr8:10450308..10452176-chr8:10695894..10698184,2 | MCF-7 | breast: | |
47 | chr8:10405624..10406204-chr8:10444484..10445163,2 | MCF-7 | breast: | |
48 | chr8:10444970..10445545-chr8:10682548..10683133,2 | K562 | blood: | |
49 | chr8:10354981..10356496-chr8:10377351..10379387,2 | K562 | blood: | |
50 | chr8:10444435..10445487-chr8:10682600..10683390,5 | MCF-7 | breast: |
(count:16 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RP1L1-2 | chr8:10356238-10356318 | ENSG00000253649.1 |
2 | lnc-RP1L1-1 | chr8:10436255-10436957 | XLOC_007004 |
3 | lnc-RP1L1-1 | chr8:10436228-10436805 | NONHSAT125009 |
4 | lnc-RP1L1-6 | chr8:10392632-10392891 | ucscGeneNc_uc010lru_1 |
5 | lnc-RP1L1-2 | chr8:10354145-10354320 | NONHSAT124998 |
6 | lnc-RP1L1-6 | chr8:10393536-10393728 | ucscGeneNc_uc010lru_1 |
7 | lnc-RP1L1-6 | chr8:10377798-10378151 | ucscGeneNc_uc010lru_1 |
8 | lnc-PRSS55-2 | chr8:10417991-10418798 | NONHSAT125007 |
9 | lnc-RP1L1-6 | chr8:10379007-10379166 | ucscGeneNc_uc010lru_1 |
10 | lnc-PRSS55-1 | chr8:10344317-10346944 | NONHSAT125003 |
11 | lnc-PRSS55-1 | chr8:10344317-10347176 | ENSG00000272505.1 |
12 | lnc-RP1L1-6 | chr8:10442350-10442505 | ucscGeneNc_uc010lru_1 |
13 | lnc-RP1L1-1 | chr8:10438163-10438247 | XLOC_007004 |
14 | lnc-PRSS55-1 | chr8:10345921-10346428 | NONHSAT124996 |
15 | lnc-RP1L1-1 | chr8:10436958-10436997 | NONHSAT125009 |
16 | lnc-RP1L1-2 | chr8:10375404-10375525 | ENSG00000253649.1 |
No data |
(count:1 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | RP1L1 | hsa-miR-335-5p | chr8:10464033-10464056 |
Variant related genes | Relation type |
---|---|
ENSG00000272505 | TF binding region |
PRSS55 | TF binding region |
PRSS51 | TF binding region |
ENSG00000272505 | CpG island |
PRSS55 | CpG island |
PRSS51 | CpG island |
ENSG00000254093 | chromatin interactions |
ENSG00000253649 | chromatin interactions |
ENSG00000184647 | chromatin interactions |
ENSG00000258724 | chromatin interactions |
ENSG00000253695 | chromatin interactions |
ENSG00000253641 | chromatin interactions |
FAM102A | miRNA target sites |
DCTN5 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs189726574 | chr8:10343594-10343595 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs555174662 | chr8:10343599-10343600 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs574590825 | chr8:10343611-10343612 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs540370113 | chr8:10343625-10343626 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs79177806 | chr8:10343630-10343631 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs368077343 | chr8:10343635-10343636 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs576832952 | chr8:10343647-10343648 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs546053079 | chr8:10343658-10343659 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs116023907 | chr8:10343660-10343661 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs75820248 | chr8:10343683-10343684 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs541635025 | chr8:10343711-10343712 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs535984431 | chr8:10343713-10343714 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs78581297 | chr8:10343719-10343720 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs181019261 | chr8:10343736-10343737 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs145119194 | chr8:10343738-10343739 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs138975846 | chr8:10343740-10343741 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs71516577 | chr8:10343743-10343744 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs570416236 | chr8:10343758-10343759 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs532974262 | chr8:10343759-10343760 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs549783319 | chr8:10343763-10343764 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs569429622 | chr8:10343786-10343787 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs59747347 | chr8:10343789-10343790 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs185047199 | chr8:10343802-10343803 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs549874399 | chr8:10343811-10343812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs570009685 | chr8:10343826-10343827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs575480907 | chr8:10343861-10343862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs6601469 | chr8:10343863-10343864 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs113520079 | chr8:10343871-10343872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs191030102 | chr8:10343883-10343884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs111645934 | chr8:10343885-10343886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs11780245 | chr8:10343887-10343888 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
32 | rs545859857 | chr8:10343890-10343891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs556547739 | chr8:10343897-10343898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs116477444 | chr8:10343905-10343906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs542146079 | chr8:10343934-10343935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs138527180 | chr8:10343938-10343939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs527485280 | chr8:10343961-10343962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs541098586 | chr8:10343964-10343965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183169798 | chr8:10343966-10343967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564154263 | chr8:10343987-10343988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs533076273 | chr8:10343996-10343997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs532830334 | chr8:10344004-10344005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs77620164 | chr8:10344016-10344017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs114086396 | chr8:10344021-10344022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs546410976 | chr8:10344047-10344048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs141153441 | chr8:10344053-10344054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs548478187 | chr8:10344072-10344073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs568288776 | chr8:10344106-10344107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs543401938 | chr8:10344125-10344126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs559871955 | chr8:10344147-10344148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Autism | 22495311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Breast cancer | 21990379 | CNVD |
Psoriasis | 20403174 | CNVD |
Psoriasis | 20663923 | CNVD |
Crohn''s disease | 16909382 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Crohn''s disease | 20877625 | CNVD |
Inflammatory disorder | 20877625 | CNVD |
Cardiac defect | 21933911 | CNVD |
Psoriasis | 18059266 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Psoriasis | 20877625 | CNVD |
Mental retardation | 17847001 | CNVD |
Prostate cancer | 17217626 | CNVD |
Schizophrenia | 21399695 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Psoriasis | 18848619 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Colorectal cancer | 17229543 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Developmental disorder | 20461109 | CNVD |
abnormal development | 18461090 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Epilepsy | 20502679 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Gastric cancer | 21811585 | CNVD |
Osteosarcoma | 21215367 | CNVD |
Breast cancer | 22522925 | CNVD |
Colorectal cancer | 16774939 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:10329000-10345600 | Weak transcription | Brain Hippocampus Middle | brain |
2 | chr8:10332800-10344000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
3 | chr8:10335400-10355200 | Weak transcription | Fetal Brain Male | brain |
4 | chr8:10335800-10357600 | Weak transcription | Brain Anterior Caudate | brain |
5 | chr8:10336200-10350200 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
6 | chr8:10338000-10357600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
7 | chr8:10339600-10357600 | Weak transcription | Liver | Liver |
8 | chr8:10339800-10354400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
9 | chr8:10340800-10346200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
10 | chr8:10341200-10345400 | Weak transcription | Brain Angular Gyrus | brain |
11 | chr8:10342200-10353200 | Weak transcription | Brain Germinal Matrix | brain |
12 | chr8:10342400-10353000 | Weak transcription | Fetal Brain Female | brain |
13 | chr8:10345200-10345400 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin03 | Skin |
14 | chr8:10345400-10345800 | Enhancers | Brain Angular Gyrus | brain |
15 | chr8:10345600-10346000 | Enhancers | Brain Hippocampus Middle | brain |
16 | chr8:10345800-10349000 | Weak transcription | Aorta | Aorta |
17 | chr8:10346200-10346400 | Enhancers | Brain Inferior Temporal Lobe | brain |
18 | chr8:10351600-10352000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
19 | chr8:10352400-10353400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
20 | chr8:10353000-10356000 | Strong transcription | Fetal Brain Female | brain |
21 | chr8:10353200-10354800 | Strong transcription | Brain Germinal Matrix | brain |
22 | chr8:10354400-10355600 | Strong transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
23 | chr8:10354800-10356000 | Weak transcription | Brain Germinal Matrix | brain |
24 | chr8:10355600-10358200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
25 | chr8:10356000-10356400 | Strong transcription | Brain Germinal Matrix | brain |
26 | chr8:10356000-10358000 | Weak transcription | Fetal Brain Female | brain |
27 | chr8:10356400-10368800 | Weak transcription | Brain Germinal Matrix | brain |
28 | chr8:10357000-10357800 | Enhancers | Gastric | stomach |
29 | chr8:10357600-10357800 | Enhancers | Liver | Liver |
30 | chr8:10357600-10357800 | Enhancers | Brain Anterior Caudate | brain |
31 | chr8:10361000-10368400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
32 | chr8:10367400-10367600 | Enhancers | GM12878-XiMat | blood |
33 | chr8:10367400-10367800 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
34 | chr8:10367400-10367800 | Enhancers | Duodenum Smooth Muscle | Duodenum |
35 | chr8:10367600-10367800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
36 | chr8:10367600-10367800 | Flanking Active TSS | Colon Smooth Muscle | Colon |
37 | chr8:10367600-10367800 | Enhancers | Fetal Lung | lung |
38 | chr8:10367600-10368000 | Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
39 | chr8:10367600-10368200 | Active TSS | Primary T helper memory cells from peripheral blood 2 | blood |
40 | chr8:10367600-10368200 | Active TSS | Duodenum Mucosa | Duodenum |
41 | chr8:10367600-10368200 | Active TSS | Osteobl | bone |
42 | chr8:10367600-10368400 | Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |
43 | chr8:10367600-10368400 | Active TSS | NHDF-Ad | bronchial |
44 | chr8:10367600-10368400 | Active TSS | NHLF | lung |
45 | chr8:10367600-10368600 | Active TSS | Rectal Mucosa Donor 29 | rectum |
46 | chr8:10367600-10368600 | Active TSS | Rectal Smooth Muscle | rectum |
47 | chr8:10367600-10370200 | Flanking Active TSS | GM12878-XiMat | blood |
48 | chr8:10367800-10368000 | Flanking Active TSS | Primary T helper 17 cells PMA-I stimulated | -- |
49 | chr8:10367800-10368000 | Enhancers | Brain Hippocampus Middle | brain |
50 | chr8:10367800-10368000 | Bivalent Enhancer | HMEC | breast |