Variant report

Variant	rs4713812
Chromosome Location	chr6:34528955-34528956
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	ZNF263	chr6:34528219-34529168	HEK293-T-REx	kidney:	n/a	chr6:34528291-34528300
2	HDAC2	chr6:34528207-34528980	K562	blood:	n/a	n/a
3	CTCF	chr6:34528327-34529018	K562	blood:	n/a	chr6:34528811-34528824
4	FOXP2	chr6:34528238-34529036	PFSK-1	brain:	n/a	n/a
5	RAD21	chr6:34528570-34529055	A549	lung:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
6	ZNF143	chr6:34528780-34529145	H1-hESC	embryonic stem cell:	n/a	n/a
7	TRIM28	chr6:34528089-34528961	K562	blood:	n/a	n/a
8	ZC3H11A	chr6:34528396-34529231	K562	blood:	n/a	n/a
9	CBX3	chr6:34528238-34529132	K562	blood:	n/a	n/a
10	REST	chr6:34528260-34528960	K562	blood:	n/a	chr6:34528853-34528862
11	ZMIZ1	chr6:34528295-34529087	K562	blood:	n/a	n/a
12	MAZ	chr6:34527748-34529101	K562	blood:	n/a	n/a
13	RCOR1	chr6:34527743-34529167	K562	blood:	n/a	n/a
14	MYC	chr6:34527833-34529102	K562	blood:	n/a	n/a
15	RAD21	chr6:34528476-34528996	HepG2	liver:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
16	RAD21	chr6:34528474-34529131	SK-N-SH	brain:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
17	HCFC1	chr6:34528219-34529001	K562	blood:	n/a	n/a
18	RCOR1	chr6:34527733-34529183	K562	blood:	n/a	n/a
19	BHLHE40	chr6:34527683-34529135	K562	blood:	n/a	n/a
20	BHLHE40	chr6:34528358-34529016	HepG2	liver:	n/a	n/a
21	ZBTB7A	chr6:34528199-34529046	K562	blood:	n/a	n/a
22	ZNF143	chr6:34528881-34529013	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:34528584-34528961	HepG2	liver:	n/a	chr6:34528811-34528824
24	MAX	chr6:34528668-34529106	K562	blood:	n/a	n/a
25	POLR2A	chr6:34527512-34529039	K562	blood:	n/a	n/a
26	YY1	chr6:34528285-34528975	K562	blood:	n/a	n/a
27	CCNT2	chr6:34528207-34528986	K562	blood:	n/a	chr6:34528756-34528765
28	RAD21	chr6:34528552-34529101	ECC-1	luminal epithelium:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
29	E2F4	chr6:34528220-34529141	K562	blood:	n/a	n/a
30	MAX	chr6:34528240-34529024	K562	blood:	n/a	n/a
31	RAD21	chr6:34528297-34529001	HepG2	liver:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
32	SMC3	chr6:34528322-34528961	K562	blood:	n/a	chr6:34528811-34528821 chr6:34528811-34528825
33	ARID3A	chr6:34528321-34529035	K562	blood:	n/a	n/a
34	TBL1XR1	chr6:34528216-34529015	K562	blood:	n/a	n/a
35	RAD21	chr6:34528581-34529007	H1-hESC	embryonic stem cell:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
36	JUND	chr6:34528258-34529052	K562	blood:	n/a	chr6:34528567-34528577 chr6:34528606-34528618 chr6:34528567-34528577 chr6:34528566-34528577 chr6:34528567-34528577
37	CTCF	chr6:34528529-34529026	K562	blood:	n/a	chr6:34528811-34528824
38	ELK1	chr6:34528847-34529081	K562	blood:	n/a	n/a
39	USF2	chr6:34528822-34529097	HepG2	liver:	n/a	n/a
40	GABPA	chr6:34528204-34529094	K562	blood:	n/a	n/a
41	EP300	chr6:34527579-34528979	K562	blood:	n/a	n/a
42	MAFK	chr6:34528042-34528966	K562	blood:	n/a	n/a
43	RAD21	chr6:34528564-34528976	HepG2	liver:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823
44	CTCF	chr6:34528657-34528985	K562	blood:	n/a	chr6:34528811-34528824
45	CTCF	chr6:34528554-34529075	MCF-7	breast:	n/a	chr6:34528811-34528824
46	MAZ	chr6:34528469-34528994	HepG2	liver:	n/a	n/a
47	MAX	chr6:34528138-34529259	K562	blood:	n/a	n/a
48	PML	chr6:34528167-34529009	K562	blood:	n/a	n/a
49	CBX3	chr6:34528147-34529296	K562	blood:	n/a	n/a
50	RAD21	chr6:34528554-34529024	MCF-7	breast:	n/a	chr6:34528809-34528821 chr6:34528807-34528826 chr6:34528811-34528821 chr6:34528861-34528873 chr6:34528810-34528823

No.	Distal block	Cell Line	Cell type
1	chr6:34528906..34533005-chr6:34533870..34536568,4	MCF-7	breast:
2	chr6:34520436..34525113-chr6:34525166..34530447,6	K562	blood:
3	chr6:34527055..34529917-chr6:34543453..34544974,2	MCF-7	breast:
4	chr6:34528717..34530463-chr6:34574776..34577421,2	K562	blood:
5	chr6:34527129..34530623-chr6:34530939..34533511,3	K562	blood:
6	chr6:34528409..34535112-chr6:34539790..34543716,10	K562	blood:
7	chr6:34514003..34515621-chr6:34528599..34531450,2	K562	blood:
8	chr20:52484501..52486317-chr6:34526583..34529198,2	MCF-7	breast:
9	chr6:34496932..34498060-chr6:34528153..34529212,4	MCF-7	breast:
10	chr6:34491195..34497458-chr6:34528901..34533837,5	K562	blood:
11	chr6:34216270..34217861-chr6:34527614..34529829,2	MCF-7	breast:
12	chr6:34527602..34533050-chr6:34533572..34539589,8	K562	blood:
13	chr6:34527129..34529225-chr6:34531595..34533511,2	K562	blood:

Variant related genes	Relation type
SPDEF	TF binding region
ENSG00000196114	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000186577	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2233631	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2233632	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2395597	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs3756929	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756930	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756931	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798541	0.91[EUR][1000 genomes]
rs3798542	0.91[EUR][1000 genomes]
rs3798543	0.94[ASN][1000 genomes]
rs3800463	0.91[EUR][1000 genomes]
rs4713813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713815	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4713817	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6901672	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs9296119	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9296120	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296121	0.81[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv1016788	chr6:34496002-34529165	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv1023870	chr6:34509776-34544041	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	nsv1015306	chr6:34509776-34549107	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv1032763	chr6:34509776-34552797	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
21	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv1021859	chr6:34515436-34535289	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
23	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34527400-34529000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr6:34527400-34529200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:34527600-34529000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:34527600-34529000	Enhancers	Right Ventricle	heart
5	chr6:34527600-34529000	Flanking Active TSS	K562	blood
6	chr6:34527600-34529600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:34527600-34529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:34527600-34530400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:34527600-34530400	Enhancers	Gastric	stomach
10	chr6:34527600-34532800	Enhancers	Stomach Mucosa	stomach
11	chr6:34527600-34533800	Enhancers	Placenta	Placenta
12	chr6:34527800-34529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:34527800-34529200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:34528000-34529000	Enhancers	Fetal Intestine Small	intestine
15	chr6:34528000-34529000	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr6:34528000-34529200	Enhancers	A549	lung
17	chr6:34528000-34529400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:34528200-34529000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr6:34528200-34529200	Enhancers	NHLF	lung
20	chr6:34528200-34529400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:34528200-34529400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:34528200-34530200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:34528400-34529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:34528400-34529000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:34528400-34529000	Enhancers	NH-A	brain
26	chr6:34528400-34529000	Enhancers	NHDF-Ad	bronchial
27	chr6:34528400-34529200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:34528400-34529200	Enhancers	Spleen	Spleen
29	chr6:34528400-34529600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:34528600-34529000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:34528600-34529200	Enhancers	Hela-S3	cervix
32	chr6:34528600-34529200	Enhancers	HUVEC	blood vessel
33	chr6:34528600-34529400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:34528800-34529000	Enhancers	Colonic Mucosa	Colon
35	chr6:34528800-34529200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:34528800-34529600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:34528800-34533800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:34528800-34542200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:34528800-34551400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links