Variant report

Variant	rs1979063
Chromosome Location	chr4:56718473-56718474
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	TEAD4	chr4:56717937-56718504	HepG2	liver:	n/a	n/a
2	TCF7L2	chr4:56718172-56718511	MCF-7	breast:	n/a	n/a
3	MYC	chr4:56718123-56718528	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:56718122-56718513	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:56718107-56718527	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:56717893..56722441-chr4:56723240..56726712,5	MCF-7	breast:
2	chr4:56717920..56722163-chr4:56723001..56728347,7	K562	blood:
3	chr4:56712983..56715874-chr4:56716804..56719417,2	K562	blood:

Variant related genes	Relation type
EXOC1	TF binding region
ENSG00000090989	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10014211	0.88[EUR][1000 genomes]
rs1947128	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1947130	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2053743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213948	0.92[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs4865041	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7687289	0.92[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56716000-56719200	Weak transcription	Right Atrium	heart
2	chr4:56716400-56719200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:56716400-56719200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:56716400-56719800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:56716600-56718600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:56716800-56719200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:56716800-56719800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:56716800-56719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:56717400-56719200	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:56717400-56719400	Enhancers	HMEC	breast
11	chr4:56717600-56718600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:56717600-56718600	Enhancers	Fetal Intestine Small	intestine
13	chr4:56717600-56718600	Flanking Active TSS	HepG2	liver
14	chr4:56717600-56719000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr4:56717600-56719200	Enhancers	Primary T cells from cord blood	blood
16	chr4:56717600-56719200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:56717600-56719200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:56717600-56719400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:56717600-56719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:56717600-56719800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:56717800-56719200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:56717800-56719200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr4:56717800-56719400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr4:56718000-56718600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:56718000-56718600	Flanking Active TSS	NHEK	skin
26	chr4:56718000-56719200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:56718000-56719600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:56718200-56719200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:56718200-56719600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:56718400-56718600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:56718400-56718800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:56718400-56719200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:56718400-56719200	Weak transcription	Placenta	Placenta
34	chr4:56718400-56719200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr4:56718400-56719200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:56718400-56719400	Weak transcription	Aorta	Aorta
37	chr4:56718400-56719400	Weak transcription	Fetal Intestine Large	intestine
38	chr4:56718400-56719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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