Variant report

Variant	rs7695346
Chromosome Location	chr4:186633748-186633749
allele	C/T
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	HNF4A	chr4:186633398-186633846	HepG2	liver:	n/a	chr4:186633664-186633679
2	HNF4G	chr4:186633417-186633910	HepG2	liver:	n/a	chr4:186633665-186633680
3	REST	chr4:186633550-186633938	HepG2	liver:	n/a	n/a
4	HEY1	chr4:186633567-186633879	HepG2	liver:	n/a	n/a
5	NFIC	chr4:186633554-186633999	HepG2	liver:	n/a	n/a
6	RAD21	chr4:186633509-186633916	HepG2	liver:	n/a	n/a
7	MYC	chr4:186633512-186633887	HepG2	liver:	n/a	n/a
8	FOXA1	chr4:186633357-186633866	HepG2	liver:	n/a	n/a
9	TEAD4	chr4:186633363-186633887	HepG2	liver:	n/a	n/a
10	MAX	chr4:186633269-186634423	HepG2	liver:	n/a	n/a
11	HDAC2	chr4:186633452-186633922	HepG2	liver:	n/a	n/a
12	RCOR1	chr4:186633602-186633886	HepG2	liver:	n/a	n/a
13	EP300	chr4:186633410-186633958	HepG2	liver:	n/a	n/a
14	HNF4A	chr4:186633483-186633859	HepG2	liver:	n/a	chr4:186633664-186633679
15	MAX	chr4:186633506-186633914	HepG2	liver:	n/a	n/a
16	HNF4G	chr4:186633456-186633855	HepG2	liver:	n/a	chr4:186633665-186633680
17	NFIC	chr4:186633413-186633871	HepG2	liver:	n/a	n/a
18	JUND	chr4:186633519-186633828	HepG2	liver:	n/a	n/a
19	FOXA1	chr4:186633371-186633878	HepG2	liver:	n/a	n/a
20	HNF4A	chr4:186633370-186633896	HepG2	liver:	n/a	chr4:186633664-186633679
21	ARID3A	chr4:186633419-186634115	HepG2	liver:	n/a	n/a
22	MXI1	chr4:186633331-186634169	HepG2	liver:	n/a	n/a
23	FOXA1	chr4:186633359-186634007	HepG2	liver:	n/a	n/a
24	CHD2	chr4:186633616-186633814	HepG2	liver:	n/a	n/a
25	CTCF	chr4:186633720-186633870	HepG2	liver:	n/a	n/a
26	MAZ	chr4:186633527-186633853	HepG2	liver:	n/a	n/a
27	CEBPB	chr4:186633465-186633857	HepG2	liver:	n/a	n/a
28	FOXA2	chr4:186633465-186633840	HepG2	liver:	n/a	n/a
29	MYBL2	chr4:186633463-186633955	HepG2	liver:	n/a	n/a
30	RAD21	chr4:186633538-186633815	HepG2	liver:	n/a	n/a
31	FOXA1	chr4:186633505-186633851	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:186633208-186634299	HepG2	liver:	n/a	n/a
33	EP300	chr4:186633485-186633860	HepG2	liver:	n/a	n/a
34	SP1	chr4:186633408-186633925	HepG2	liver:	n/a	n/a
35	RXRA	chr4:186633542-186633821	HepG2	liver:	n/a	n/a
36	TCF12	chr4:186633551-186633849	HepG2	liver:	n/a	n/a
37	MYBL2	chr4:186633438-186633983	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000207497	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10015763	0.93[ASN][1000 genomes]
rs10016122	0.92[ASN][1000 genomes]
rs10017672	0.86[ASN][1000 genomes]
rs10017940	0.85[ASN][1000 genomes]
rs10019263	0.92[ASN][1000 genomes]
rs11132336	0.97[ASN][1000 genomes]
rs11132337	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11132339	0.87[ASN][1000 genomes]
rs11725010	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11733264	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11932587	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11937510	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11941721	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12640689	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12643220	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12649216	0.93[ASN][1000 genomes]
rs13119888	0.86[ASN][1000 genomes]
rs1566351	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1566352	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1566353	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2030143	0.90[ASN][1000 genomes]
rs2047499	0.85[ASN][1000 genomes]
rs35786644	0.82[ASN][1000 genomes]
rs4861676	0.85[ASN][1000 genomes]
rs4862565	0.86[ASN][1000 genomes]
rs6812761	0.97[ASN][1000 genomes]
rs6820044	0.92[ASN][1000 genomes]
rs6825114	0.92[ASN][1000 genomes]
rs6825669	0.92[ASN][1000 genomes]
rs6826210	0.92[ASN][1000 genomes]
rs6836237	0.86[ASN][1000 genomes]
rs6837079	0.86[ASN][1000 genomes]
rs7673413	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7689859	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7690098	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs904451	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9991426	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9991548	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186622600-186637200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:186627800-186633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:186628200-186637600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:186629000-186635400	Enhancers	HUVEC	blood vessel
7	chr4:186629200-186634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:186629600-186634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:186630000-186651600	Weak transcription	HSMM	muscle
10	chr4:186630600-186634600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:186630600-186635200	Enhancers	HMEC	breast
12	chr4:186630600-186635200	Enhancers	NH-A	brain
13	chr4:186631200-186638200	Weak transcription	HSMMtube	muscle
14	chr4:186631800-186635600	Enhancers	Right Ventricle	heart
15	chr4:186632000-186633800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:186632000-186637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:186632200-186639800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:186632600-186635000	Enhancers	Stomach Mucosa	stomach
19	chr4:186632600-186635400	Enhancers	Hela-S3	cervix
20	chr4:186632600-186637200	Weak transcription	Fetal Brain Male	brain
21	chr4:186632800-186633800	Enhancers	Fetal Heart	heart
22	chr4:186632800-186636200	Enhancers	Fetal Intestine Large	intestine
23	chr4:186632800-186636600	Enhancers	Fetal Intestine Small	intestine
24	chr4:186632800-186637000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:186632800-186637200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:186632800-186637400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:186633000-186633800	Enhancers	Gastric	stomach
28	chr4:186633000-186634000	Enhancers	Fetal Stomach	stomach
29	chr4:186633000-186634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:186633000-186636000	Enhancers	Pancreas	Pancrea
31	chr4:186633000-186642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:186633200-186633800	Active TSS	Liver	Liver
33	chr4:186633200-186633800	Weak transcription	Ovary	ovary
34	chr4:186633200-186634400	Enhancers	Lung	lung
35	chr4:186633400-186633800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:186633400-186633800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:186633400-186633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:186633400-186634000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:186633400-186634000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:186633400-186634000	Genic enhancers	Left Ventricle	heart
41	chr4:186633400-186634400	Enhancers	Right Atrium	heart
42	chr4:186633400-186634800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:186633400-186635400	Flanking Active TSS	HepG2	liver
44	chr4:186633400-186640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:186633600-186633800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:186633600-186634000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:186633600-186634000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:186633600-186634000	Weak transcription	Small Intestine	intestine
49	chr4:186633600-186634000	Enhancers	Spleen	Spleen
50	chr4:186633600-186634000	Weak transcription	Osteobl	bone

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