Variant report

Variant	esv1829018
Chromosome Location	chr3:20116077-20596244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3036)
CpG islands
(count:1772)
Chromatin interactive
region (count:229)
LncRNA
region (count:23)
Mature miRNA
region (count: 1)
miRNA target
sites (count:14)

(count:3036 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20553373-20553610	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
4	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
5	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
6	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
7	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:20394102-20394581	K562	blood:	n/a	n/a
9	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
10	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
11	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
12	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
13	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
14	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
15	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
16	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
17	ATF1	chr3:20521702-20521870	K562	blood:	n/a	n/a
18	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
19	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
20	ATF1	chr3:20145751-20146090	K562	blood:	n/a	n/a
21	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
22	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
25	ATF2	chr3:20145678-20146063	GM12878	blood:	n/a	n/a
26	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
27	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr3:20145673-20146200	GM12878	blood:	n/a	n/a
29	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
30	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
31	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
33	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
34	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
35	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
36	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF3	chr3:20394287-20394634	K562	blood:	n/a	n/a
38	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
39	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
40	BACH1	chr3:20492139-20492474	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
42	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
43	BACH1	chr3:20394371-20394578	K562	blood:	n/a	n/a
44	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
45	BACH1	chr3:20578833-20579051	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr3:20536253-20536368	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr3:20535546-20535645	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr3:20492146-20492486	K562	blood:	n/a	n/a
49	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
50	BACH1	chr3:20394395-20394609	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1772 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20227789-20227839	AoSMC	blood vessel:	n/a
2	chr3:20223923-20223973	A549	lung:	n/a
3	chr3:20418856-20418906	SK-N-MC	brain:	n/a
4	chr3:20227789-20227839	AoSMC	blood vessel:	n/a
5	chr3:20223923-20223973	A549	lung:	n/a
6	chr3:20418856-20418906	SK-N-MC	brain:	n/a
7	chr3:20589760-20589810	PANC-1	pancreas:	n/a
8	chr3:20226994-20227044	SK-N-SH_RA	brain:	n/a
9	chr3:20228976-20229026	GM12891	blood:	n/a
10	chr3:20227663-20227713	GM12891	blood:	n/a
11	chr3:20227091-20227141	HEEpiC	esophagus:	n/a
12	chr3:20195067-20195117	HRCEpiC	kidney:	n/a
13	chr3:20227670-20227720	HMEC	breast:	n/a
14	chr3:20227670-20227720	AG04450	lung:	fetal
15	chr3:20448283-20448333	SK-N-SH	brain:	n/a
16	chr3:20183665-20183715	CMK	blood:	n/a
17	chr3:20522301-20522351	AG10803	skin:	n/a
18	chr3:20183665-20183715	AG10803	skin:	n/a
19	chr3:20195067-20195117	BJ	skin:	n/a
20	chr3:20418856-20418906	AG04449	skin:	fetal
21	chr3:20418856-20418906	MCF10A-Er-Src	breast:	n/a
22	chr3:20227789-20227839	SK-N-MC	brain:	n/a
23	chr3:20412342-20412392	Jurkat	blood:	n/a
24	chr3:20448283-20448333	AG04450	lung:	fetal
25	chr3:20195067-20195117	K562	blood:	n/a
26	chr3:20448283-20448333	HCF	heart:	n/a
27	chr3:20321584-20321634	U87	brain:	n/a
28	chr3:20371290-20371340	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:20412342-20412392	SK-N-SH_RA	brain:	n/a
30	chr3:20183665-20183715	RPTEC	kidney:	n/a
31	chr3:20226964-20227014	A549	lung:	n/a
32	chr3:20227091-20227141	AoSMC	blood vessel:	n/a
33	chr3:20195067-20195117	MCF-7	breast:	n/a
34	chr3:20226964-20227014	Jurkat	blood:	n/a
35	chr3:20371290-20371340	H1-hESC	embryonic stem cell:	embryo
36	chr3:20418856-20418906	HRPEpiC	eye:	n/a
37	chr3:20227670-20227720	K562	blood:	n/a
38	chr3:20575513-20575563	HNPCEpiC	eye:	n/a
39	chr3:20195067-20195117	GM12878	blood:	n/a
40	chr3:20195067-20195117	SKMC	muscle:	n/a
41	chr3:20228976-20229026	GM06990	blood:	n/a
42	chr3:20227940-20227990	NH-A	brain:	n/a
43	chr3:20227091-20227141	PANC-1	pancreas:	n/a
44	chr3:20227822-20227872	AG04449	skin:	fetal
45	chr3:20227940-20227990	AG04449	skin:	fetal
46	chr3:20195067-20195117	SK-N-SH	brain:	n/a
47	chr3:20227670-20227720	AG04449	skin:	fetal
48	chr3:20227059-20227109	NH-A	brain:	n/a
49	chr3:20412342-20412392	HNPCEpiC	eye:	n/a
50	chr3:20589671-20589721	PrEC	prostate:	n/a

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr3:20123056..20125408-chr3:20133416..20135559,2	MCF-7	breast:
2	chr3:20161544..20163874-chr3:20167611..20170613,4	K562	blood:
3	chr3:20213813..20216501-chr3:20227432..20229116,2	MCF-7	breast:
4	chr3:20381373..20383643-chr3:20384207..20386125,2	K562	blood:
5	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
6	chr3:20364762..20367629-chr3:20378813..20381206,2	K562	blood:
7	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
8	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
9	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
10	chr3:20225982..20227551-chr3:20349845..20352725,2	K562	blood:
11	chr3:20228018..20229588-chr3:20240700..20242261,2	K562	blood:
12	chr3:20381671..20382483-chr3:21592493..21593315,3	MCF-7	breast:
13	chr3:20381543..20382061-chr3:21935726..21936559,2	MCF-7	breast:
14	chr3:20329415..20331770-chr3:20333391..20336112,2	K562	blood:
15	chr3:20329415..20331770-chr3:20333391..20336112,2	K562	blood:
16	chr3:20029851..20032501-chr3:20180308..20182516,2	K562	blood:
17	chr3:20108340..20110457-chr3:20115203..20117134,2	K562	blood:
18	chr3:20413525..20416049-chr3:20420124..20421856,2	K562	blood:
19	chr3:19986817..19988952-chr3:20217097..20219211,2	K562	blood:
20	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
21	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
22	chr3:20212661..20217850-chr3:20224065..20229766,9	K562	blood:
23	chr3:20144778..20146752-chr3:20150014..20154937,5	K562	blood:
24	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
25	chr3:20186107..20188316-chr3:20191004..20193087,2	MCF-7	breast:
26	chr3:20275707..20278612-chr3:20280261..20282928,2	K562	blood:
27	chr3:20212661..20217850-chr3:20224065..20229766,9	K562	blood:
28	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
29	chr3:19971963..19973820-chr3:20118218..20121203,2	K562	blood:
30	chr3:20227937..20230614-chr3:20238703..20240365,2	K562	blood:
31	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
32	chr3:20219250..20222131-chr3:20228592..20230370,2	K562	blood:
33	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
34	chr3:20346246..20348359-chr3:20361269..20362788,2	K562	blood:
35	chr3:20227937..20230614-chr3:20238703..20240365,2	K562	blood:
36	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
37	chr3:20105530..20108149-chr3:20143893..20147714,3	MCF-7	breast:
38	chr3:20553254..20553852-chr3:21257816..21258713,2	MCF-7	breast:
39	chr3:20161409..20163112-chr3:20165671..20167276,2	MCF-7	breast:
40	chr13:113841278..113842020-chr3:20226671..20227468,2	Hela-S3	cervix:
41	chr3:20079993..20081743-chr3:20205055..20207823,2	MCF-7	breast:
42	chr3:20080586..20082828-chr3:20216112..20219264,3	K562	blood:
43	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
44	chr3:20185698..20188649-chr3:20188952..20191423,4	K562	blood:
45	chr3:20193485..20196421-chr3:20205590..20208525,2	K562	blood:
46	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
47	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
48	chr3:20177373..20179838-chr3:20195136..20197383,2	K562	blood:
49	chr3:20116658..20118757-chr3:20120468..20122356,2	K562	blood:
50	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-2	chr3:20389489-20389501	XLOC_002595
2	lnc-KAT2B-2	chr3:20389489-20389581	XLOC_002595
3	lnc-KAT2B-2	chr3:20387157-20387558	XLOC_002595
4	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
5	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
6	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
7	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
8	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
9	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
10	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
11	lnc-KAT2B-2	chr3:20392207-20392420	XLOC_002595
12	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
13	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
14	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
15	lnc-KAT2B-3	chr3:20429741-20432054	ENSG00000261734.1
16	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
17	lnc-KAT2B-2	chr3:20387152-20387274	XLOC_002595
18	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
19	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
20	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
21	lnc-KAT2B-2	chr3:20389488-20389501	NONHSAT088622
22	lnc-KAT2B-2	chr3:20387156-20387558	NONHSAT088622
23	lnc-KAT2B-2	chr3:20387517-20387558	XLOC_002595

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3135a	chr3:20179066-20179087	MIMAT0015001

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
2	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
3	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
4	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
5	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
6	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
7	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
8	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
9	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
10	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
11	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
12	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
13	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
14	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000261734	TF binding region
RNU6-815P	TF binding region
MIR3135A	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
RNY4P22	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
ENSG00000261734	CpG island
RNU6-815P	CpG island
MIR3135A	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
RNY4P22	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000144566	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000206807	chromatin interactions
ENSG00000234779	chromatin interactions

Extended variants
information (count: 15156 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:15156 , 50 per page) page: 1 2 3 4 5 6 7 ... 304

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2365367	chr3:20116077-20116078	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377417905	chr3:20116078-20116079	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564718901	chr3:20116089-20116090	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371108839	chr3:20116109-20116110	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532070197	chr3:20116168-20116169	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570755915	chr3:20116253-20116254	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547520491	chr3:20116257-20116258	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4602410	chr3:20116265-20116266	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs528875184	chr3:20116300-20116301	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114238475	chr3:20116310-20116311	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542918107	chr3:20116312-20116313	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371270987	chr3:20116316-20116317	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374706718	chr3:20116355-20116356	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61105111	chr3:20116357-20116358	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9851449	chr3:20116438-20116439	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537365505	chr3:20116444-20116445	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149121653	chr3:20116479-20116480	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570628851	chr3:20116484-20116485	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551127317	chr3:20116585-20116586	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112702314	chr3:20116587-20116588	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143461671	chr3:20116687-20116688	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369891339	chr3:20116698-20116699	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535485867	chr3:20116776-20116777	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557347656	chr3:20116795-20116796	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575814426	chr3:20116801-20116802	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546487680	chr3:20116843-20116844	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564478076	chr3:20116860-20116861	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77851264	chr3:20116862-20116863	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186227781	chr3:20116888-20116889	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541120843	chr3:20116893-20116894	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4858753	chr3:20116904-20116905	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs527833109	chr3:20116915-20116916	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4858754	chr3:20116934-20116935	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs566351603	chr3:20116973-20116974	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4858755	chr3:20116974-20116975	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4858756	chr3:20116982-20116983	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569187790	chr3:20116995-20116996	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191093601	chr3:20117010-20117011	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4858757	chr3:20117039-20117040	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs74416814	chr3:20117042-20117043	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146740276	chr3:20117124-20117125	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546666371	chr3:20117146-20117147	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575228065	chr3:20117155-20117156	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375147182	chr3:20117159-20117160	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570327957	chr3:20117191-20117192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373175501	chr3:20117232-20117233	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4858758	chr3:20117233-20117234	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs574963221	chr3:20117237-20117238	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557033504	chr3:20117242-20117243	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575599490	chr3:20117298-20117299	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3555 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:20099400-20122800	Weak transcription	Lung	lung
4	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:20103200-20119400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
9	chr3:20107000-20116800	Weak transcription	Small Intestine	intestine
10	chr3:20107000-20117000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:20107000-20122600	Weak transcription	Gastric	stomach
12	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
13	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
16	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
17	chr3:20108200-20127600	Weak transcription	Ovary	ovary
18	chr3:20109000-20121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:20109200-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:20109600-20116800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
22	chr3:20110200-20122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:20110600-20117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:20110800-20121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:20110800-20121200	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:20110800-20122000	Weak transcription	Stomach Mucosa	stomach
27	chr3:20111000-20116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:20111000-20122600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:20111600-20121600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:20112200-20116400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:20112600-20116400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:20112600-20117000	Strong transcription	Primary T cells from cord blood	blood
33	chr3:20112600-20117600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:20112800-20117200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr3:20112800-20117200	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:20112800-20117800	Enhancers	Brain Angular Gyrus	brain
37	chr3:20113000-20116200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:20113000-20116400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:20113000-20118200	Strong transcription	Primary B cells from cord blood	blood
40	chr3:20113000-20118600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr3:20113000-20119000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:20113000-20119000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:20113200-20119000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:20113400-20122600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr3:20113400-20122600	Weak transcription	HSMMtube	muscle
46	chr3:20113600-20116400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:20113600-20116400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:20113600-20117600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:20113600-20122000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:20113600-20122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links