Variant report

Variant	rs3801786
Chromosome Location	chr7:111385025-111385026
allele	A/G
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	JUND	chr7:111384062-111385557	SK-N-SH	brain:	n/a	chr7:111384822-111384834 chr7:111384849-111384858
2	EP300	chr7:111384283-111385520	SK-N-SH	brain:	n/a	chr7:111384758-111384772 chr7:111385096-111385105
3	JUND	chr7:111384316-111385470	SK-N-SH	brain:	n/a	chr7:111384822-111384834 chr7:111384849-111384858
4	TEAD4	chr7:111384284-111385471	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr7:111384597-111385184	IMR90	lung:	n/a	chr7:111384757-111384770 chr7:111384759-111384770 chr7:111384757-111384768 chr7:111384757-111384770
6	EP300	chr7:111384459-111385258	SK-N-SH_RA	brain:	n/a	chr7:111384758-111384772 chr7:111385096-111385105
7	PBX3	chr7:111384155-111385517	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:111384355-111385332	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:111384834-111385211	SK-N-SH	brain:	n/a	n/a
10	EP300	chr7:111384801-111385348	SK-N-SH_RA	brain:	n/a	chr7:111385096-111385105
11	GATA3	chr7:111384201-111385626	SK-N-SH	brain:	n/a	chr7:111385094-111385104
12	GATA3	chr7:111384325-111385563	SK-N-SH	brain:	n/a	chr7:111385094-111385104
13	TCF12	chr7:111384075-111385536	SK-N-SH	brain:	n/a	n/a
14	MAX	chr7:111384715-111385313	SK-N-SH	brain:	n/a	n/a
15	EP300	chr7:111384298-111385430	SK-N-SH	brain:	n/a	chr7:111384758-111384772 chr7:111385096-111385105
16	FOS	chr7:111384823-111385352	HUVEC	blood vessel:	n/a	chr7:111385187-111385198 chr7:111384849-111384858
17	RXRA	chr7:111384381-111385474	SK-N-SH	brain:	n/a	chr7:111384424-111384444 chr7:111385189-111385198
18	TAF1	chr7:111384974-111385285	SK-N-SH	brain:	n/a	n/a
19	JUND	chr7:111384344-111385506	SK-N-SH	brain:	n/a	chr7:111384822-111384834 chr7:111384849-111384858
20	FOSL2	chr7:111384376-111385519	SK-N-SH	brain:	n/a	chr7:111384822-111384834 chr7:111384849-111384858
21	TCF12	chr7:111384205-111385485	SK-N-SH	brain:	n/a	n/a
22	NFIC	chr7:111384182-111386016	SK-N-SH	brain:	n/a	chr7:111385200-111385228
23	YY1	chr7:111384731-111385198	SK-N-SH	brain:	n/a	n/a
24	NFIC	chr7:111384232-111385368	SK-N-SH	brain:	n/a	chr7:111385200-111385228
25	MAX	chr7:111384736-111385418	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr7:111384306-111385492	SK-N-SH	brain:	n/a	n/a
27	PBX3	chr7:111384215-111385478	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111372370..111374946-chr7:111383099..111385955,2	K562	blood:

Variant related genes	Relation type
DOCK4	TF binding region
ENSG00000128512	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10232609	0.81[ASN][1000 genomes]
rs10234914	0.88[CHB][hapmap]
rs11770157	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs11979621	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12673769	0.87[ASN][1000 genomes]
rs12705798	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1419748	0.88[ASN][1000 genomes]
rs1859025	0.91[ASN][1000 genomes]
rs2074115	1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs2074117	0.80[CHB][hapmap]
rs2074118	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3735534	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3735535	0.87[ASN][1000 genomes]
rs3757647	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757649	0.85[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs3801782	0.84[ASN][1000 genomes]
rs3801784	0.91[ASN][1000 genomes]
rs3801787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801788	0.80[CHB][hapmap]
rs3801790	0.80[MEX][hapmap]
rs4727760	0.86[ASN][1000 genomes]
rs6466387	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6951280	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718845	0.88[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111366800-111394200	Weak transcription	Gastric	stomach
3	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
4	chr7:111369200-111386000	Weak transcription	Spleen	Spleen
5	chr7:111373600-111389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:111373600-111390200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
8	chr7:111373800-111387200	Weak transcription	Placenta	Placenta
9	chr7:111373800-111390000	Weak transcription	Psoas Muscle	Psoas
10	chr7:111375800-111394200	Weak transcription	Fetal Heart	heart
11	chr7:111376000-111387200	Weak transcription	Fetal Brain Male	brain
12	chr7:111376000-111389000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:111376000-111399600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:111376600-111386600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:111376600-111397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:111376600-111398200	Weak transcription	A549	lung
17	chr7:111376800-111389200	Weak transcription	HSMMtube	muscle
18	chr7:111377000-111390000	Weak transcription	Hela-S3	cervix
19	chr7:111377000-111396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:111377000-111396800	Weak transcription	HMEC	breast
21	chr7:111378600-111390200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:111378800-111389400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:111379400-111386400	Weak transcription	HepG2	liver
24	chr7:111379400-111393200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:111379600-111388800	Weak transcription	Fetal Kidney	kidney
26	chr7:111379600-111389800	Weak transcription	Fetal Brain Female	brain
27	chr7:111379600-111398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
29	chr7:111379800-111398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:111380000-111396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:111380800-111387600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:111382000-111389800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:111382200-111391000	Weak transcription	K562	blood
34	chr7:111383000-111387400	Strong transcription	Fetal Lung	lung
35	chr7:111383400-111385200	Genic enhancers	Brain Anterior Caudate	brain
36	chr7:111383400-111385400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:111383400-111386600	Strong transcription	Brain Substantia Nigra	brain
38	chr7:111383600-111385200	Strong transcription	Left Ventricle	heart
39	chr7:111383600-111385400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:111383800-111396600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:111383800-111396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:111383800-111396600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:111383800-111396600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:111383800-111396800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:111383800-111396800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:111383800-111400200	Weak transcription	Aorta	Aorta
47	chr7:111384000-111385200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:111384000-111385400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:111384000-111386200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:111384000-111386200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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