Variant report

Variant	esv3360168
Chromosome Location	chr3:195603605-195606403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr3:195603565-195603856	K562	blood:	n/a	chr3:195603628-195603637
2	BHLHE40	chr3:195605667-195605825	K562	blood:	n/a	n/a
3	BHLHE40	chr3:195603552-195603915	K562	blood:	n/a	chr3:195603661-195603677 chr3:195603829-195603845
4	BRCA1	chr3:195603550-195603930	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr3:195603481-195604004	K562	blood:	n/a	n/a
6	CCNT2	chr3:195603416-195603933	K562	blood:	n/a	n/a
7	CEBPB	chr3:195603549-195603855	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr3:195603388-195603968	Hela-S3	cervix:	n/a	n/a
9	E2F4	chr3:195603583-195603783	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F6	chr3:195603520-195603886	K562	blood:	n/a	n/a
11	E2F6	chr3:195605444-195605568	K562	blood:	n/a	chr3:195605516-195605528
12	EGR1	chr3:195605644-195605861	K562	blood:	n/a	n/a
13	EGR1	chr3:195605591-195605864	K562	blood:	n/a	n/a
14	ELF1	chr3:195603532-195603773	K562	blood:	n/a	n/a
15	ELK1	chr3:195606363-195606419	Hela-S3	cervix:	n/a	n/a
16	ELK1	chr3:195603375-195603915	Hela-S3	cervix:	n/a	n/a
17	ELK1	chr3:195603588-195603767	K562	blood:	n/a	n/a
18	EP300	chr3:195603696-195603866	K562	blood:	n/a	n/a
19	FOS	chr3:195603699-195603847	MCF10A-Er-Src	breast:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
20	FOS	chr3:195603617-195603774	MCF10A-Er-Src	breast:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
21	FOS	chr3:195603712-195603782	MCF10A-Er-Src	breast:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
22	FOS	chr3:195603712-195603817	MCF10A-Er-Src	breast:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
23	FOSL1	chr3:195603377-195603865	K562	blood:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
24	FOSL2	chr3:195603505-195604012	MCF-7	breast:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
25	GTF2F1	chr3:195603604-195603928	Hela-S3	cervix:	n/a	n/a
26	GTF2F1	chr3:195603786-195603893	K562	blood:	n/a	n/a
27	HA-E2F1	chr3:195603456-195603970	MCF-7	breast:	n/a	n/a
28	HCFC1	chr3:195602331-195604823	Hela-S3	cervix:	n/a	n/a
29	HCFC1	chr3:195603338-195603623	K562	blood:	n/a	n/a
30	HDAC2	chr3:195603548-195603834	K562	blood:	n/a	n/a
31	HMGN3	chr3:195603424-195603958	K562	blood:	n/a	chr3:195603754-195603763
32	IRF1	chr3:195603509-195603860	K562	blood:	n/a	chr3:195603627-195603641 chr3:195603622-195603636 chr3:195603670-195603684
33	JUN	chr3:195603406-195604064	K562	blood:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
34	JUN	chr3:195603587-195603934	K562	blood:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
35	JUND	chr3:195605030-195605278	K562	blood:	n/a	n/a
36	JUND	chr3:195604990-195605313	HepG2	liver:	n/a	n/a
37	JUND	chr3:195603543-195603959	K562	blood:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
38	JUND	chr3:195603593-195603920	Hela-S3	cervix:	n/a	chr3:195603751-195603763 chr3:195603749-195603760 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603627-195603636 chr3:195603752-195603762 chr3:195603752-195603762 chr3:195603753-195603761
39	MAFK	chr3:195603628-195603908	Hela-S3	cervix:	n/a	n/a
40	MAX	chr3:195603544-195603913	K562	blood:	n/a	chr3:195603673-195603683
41	MAX	chr3:195603379-195603943	ECC-1	luminal epithelium:	n/a	chr3:195603673-195603683
42	MAX	chr3:195603472-195603922	K562	blood:	n/a	chr3:195603673-195603683
43	MAX	chr3:195603429-195604059	MCF-7	breast:	n/a	chr3:195603673-195603683
44	MAX	chr3:195603194-195603934	Hela-S3	cervix:	n/a	chr3:195603673-195603683
45	MAX	chr3:195603375-195604000	K562	blood:	n/a	chr3:195603673-195603683
46	MAZ	chr3:195603399-195603998	K562	blood:	n/a	chr3:195603673-195603683
47	MAZ	chr3:195603246-195603907	Hela-S3	cervix:	n/a	chr3:195603673-195603683
48	MXI1	chr3:195603619-195603862	K562	blood:	n/a	n/a
49	MXI1	chr3:195603096-195603955	Hela-S3	cervix:	n/a	n/a
50	MYC	chr3:195603558-195603976	K562	blood:	n/a	chr3:195603673-195603683

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195604374-195604424	SK-N-SH	brain:	n/a
2	chr3:195603697-195603747	CMK	blood:	n/a
3	chr3:195604374-195604424	SK-N-MC	brain:	n/a
4	chr3:195604374-195604424	U87	brain:	n/a
5	chr3:195604374-195604424	ovcar-3	ovarian:	n/a
6	chr3:195603697-195603747	U87	brain:	n/a
7	chr3:195604374-195604424	GM12878	blood:	n/a
8	chr3:195603697-195603747	BJ	skin:	n/a
9	chr3:195603697-195603747	RPTEC	kidney:	n/a
10	chr3:195604374-195604424	HUVEC	blood vessel:	n/a
11	chr3:195603697-195603747	H1-hESC	embryonic stem cell:	embryo
12	chr3:195603697-195603747	T-47D	breast:	n/a
13	chr3:195604374-195604424	PANC-1	pancreas:	n/a
14	chr3:195604374-195604424	ProgFib	skin:	n/a
15	chr3:195604374-195604424	AG09309	skin:	n/a
16	chr3:195604374-195604424	BJ	skin:	n/a
17	chr3:195603697-195603747	SK-N-MC	brain:	n/a
18	chr3:195603697-195603747	AG04450	lung:	fetal
19	chr3:195604374-195604424	T-47D	breast:	n/a
20	chr3:195604374-195604424	HCM	heart:	n/a
21	chr3:195604374-195604424	PrEC	prostate:	n/a
22	chr3:195604374-195604424	NB4	blood:	n/a
23	chr3:195604374-195604424	BE2_C	brain:	n/a
24	chr3:195604374-195604424	HEK293	kidney:	embryo
25	chr3:195603697-195603747	HCM	heart:	n/a
26	chr3:195603697-195603747	GM12891	blood:	n/a
27	chr3:195604374-195604424	Caco-2	colon:	n/a
28	chr3:195604374-195604424	NT2-D1	testis:	n/a
29	chr3:195603697-195603747	NHDF-neo	bronchial:	n/a
30	chr3:195603697-195603747	ECC-1	luminal epithelium:	n/a
31	chr3:195603697-195603747	GM12892	blood:	n/a
32	chr3:195604374-195604424	HEEpiC	esophagus:	n/a
33	chr3:195603697-195603747	HCF	heart:	n/a
34	chr3:195604374-195604424	HAEpiC	amniotic membrane:	n/a
35	chr3:195603697-195603747	GM06990	blood:	n/a
36	chr3:195604374-195604424	MCF10A-Er-Src	breast:	n/a
37	chr3:195603697-195603747	HCT-116	colon:	n/a
38	chr3:195604374-195604424	MCF-7	breast:	n/a
39	chr3:195603697-195603747	SK-N-SH_RA	brain:	n/a
40	chr3:195603697-195603747	PFSK-1	brain:	n/a
41	chr3:195603697-195603747	PrEC	prostate:	n/a
42	chr3:195603697-195603747	NHBE	bronchial:	n/a
43	chr3:195603697-195603747	HPAEpiC	pulmonary alveolar:	n/a
44	chr3:195603697-195603747	HL-60	blood:	n/a
45	chr3:195603697-195603747	PANC-1	pancreas:	n/a
46	chr3:195603697-195603747	Hepatocyte	liver:	n/a
47	chr3:195603697-195603747	HRCEpiC	kidney:	n/a
48	chr3:195603697-195603747	K562	blood:	n/a
49	chr3:195603697-195603747	GM19239	blood:	n/a
50	chr3:195603697-195603747	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195601763..195604584-chr3:195636723..195640516,3	K562	blood:
2	chr3:195601233..195610120-chr3:195632410..195638442,11	MCF-7	breast:
3	chr3:195603822..195606667-chr3:195616308..195620000,3	MCF-7	breast:
4	chr3:195593301..195599220-chr3:195600993..195605430,9	MCF-7	breast:
5	chr3:195593517..195599119-chr3:195599450..195605625,8	MCF-7	breast:
6	chr3:195602309..195605964-chr3:195633937..195639111,7	MCF-7	breast:
7	chr3:195600801..195603776-chr3:195621809..195623311,2	MCF-7	breast:
8	chr3:195604291..195606203-chr3:195644465..195646096,2	K562	blood:
9	chr3:195596788..195599344-chr3:195602164..195605260,3	K562	blood:
10	chr17:56736301..56737038-chr3:195603556..195604309,2	Hela-S3	cervix:
11	chr3:195604652..195607079-chr3:195623293..195624927,2	MCF-7	breast:

Variant related genes	Relation type
TNK2	TF binding region
TNK2	CpG island
ENSG00000061938	chromatin interactions
ENSG00000224614	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000226155	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575225777	chr3:195603608-195603609	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs376145394	chr3:195603609-195603610	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs548658543	chr3:195603618-195603619	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs566968635	chr3:195603620-195603621	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs534855904	chr3:195603627-195603628	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs553189610	chr3:195603628-195603629	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs11185487	chr3:195603634-195603635	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
8	rs9815549	chr3:195603652-195603653	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
9	rs12494741	chr3:195603666-195603667	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
10	rs575089913	chr3:195603671-195603672	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs542317940	chr3:195603676-195603677	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs554288289	chr3:195603688-195603689	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs572593103	chr3:195603710-195603711	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs540458412	chr3:195603728-195603729	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs565312819	chr3:195603733-195603734	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs532857421	chr3:195603752-195603753	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs544539330	chr3:195603788-195603789	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs370186171	chr3:195603807-195603808	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs562903993	chr3:195603834-195603835	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs370595613	chr3:195603852-195603853	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs143469229	chr3:195603877-195603878	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs567007640	chr3:195603886-195603887	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs540093006	chr3:195603906-195603907	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs371290425	chr3:195603909-195603910	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs565374746	chr3:195603942-195603943	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs34730376	chr3:195603943-195603944	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs147134893	chr3:195603944-195603945	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs374165836	chr3:195603961-195603962	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs140260778	chr3:195603987-195603988	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs529191741	chr3:195603988-195603989	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs568808692	chr3:195603993-195603994	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs535884924	chr3:195604044-195604045	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs149697992	chr3:195604067-195604068	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs367783049	chr3:195604127-195604128	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs539908633	chr3:195604141-195604142	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs371149734	chr3:195604147-195604148	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs369837998	chr3:195604174-195604175	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs577320958	chr3:195604179-195604180	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs192760937	chr3:195604189-195604190	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs550360102	chr3:195604208-195604209	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs184828117	chr3:195604254-195604255	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs112681454	chr3:195604286-195604287	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs11926590	chr3:195604310-195604311	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs530404287	chr3:195604320-195604321	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs542274553	chr3:195604382-195604383	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs143180132	chr3:195604387-195604388	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs75070205	chr3:195604421-195604422	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
48	rs527801061	chr3:195604462-195604463	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs190154381	chr3:195604547-195604548	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs571420907	chr3:195604550-195604551	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Glioma	20126413	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195578400-195604800	Weak transcription	GM12878-XiMat	blood
2	chr3:195586800-195608600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:195587000-195603800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:195587400-195604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:195589000-195612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:195589400-195621800	Weak transcription	Small Intestine	intestine
7	chr3:195589800-195616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:195589800-195618800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:195589800-195619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:195590000-195607200	Strong transcription	Thymus	Thymus
11	chr3:195590000-195607400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:195590000-195615600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:195590200-195604000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:195590200-195607400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:195590200-195615800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr3:195590400-195604600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:195590600-195604800	Weak transcription	NHDF-Ad	bronchial
18	chr3:195590600-195617000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:195592000-195607000	Strong transcription	Lung	lung
20	chr3:195592200-195615800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:195592200-195616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:195592400-195607600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:195592600-195607200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:195593200-195607200	Strong transcription	Fetal Thymus	thymus
25	chr3:195595000-195604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:195595600-195608800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:195595600-195618800	Weak transcription	Fetal Kidney	kidney
28	chr3:195597400-195611800	Strong transcription	Fetal Stomach	stomach
29	chr3:195597600-195604200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:195597600-195604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:195598200-195604400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:195598600-195604400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr3:195598600-195604800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:195598600-195605200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:195598600-195605800	Weak transcription	HUVEC	blood vessel
36	chr3:195599200-195605000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:195599400-195603800	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:195599400-195604400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:195599600-195604000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:195599600-195604200	Weak transcription	Ovary	ovary
41	chr3:195599600-195605000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:195599800-195604800	Weak transcription	Left Ventricle	heart
43	chr3:195600000-195604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:195600200-195604800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:195601000-195604000	Weak transcription	Fetal Lung	lung
46	chr3:195601200-195614600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:195601400-195604000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:195601400-195608800	Weak transcription	Osteobl	bone
49	chr3:195601400-195611600	Weak transcription	NH-A	brain
50	chr3:195602000-195604800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links