Variant report

Variant	rs2233631
Chromosome Location	chr6:34524766-34524767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34524398-34525450	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34524766-34524816	PFSK-1	brain:	n/a
2	chr6:34524766-34524816	PANC-1	pancreas:	n/a
3	chr6:34524766-34524816	GM12892	blood:	n/a
4	chr6:34524766-34524816	ovcar-3	ovarian:	n/a
5	chr6:34524766-34524816	ProgFib	skin:	n/a
6	chr6:34524766-34524816	HRCEpiC	kidney:	n/a
7	chr6:34524766-34524816	HCF	heart:	n/a
8	chr6:34524766-34524816	Caco-2	colon:	n/a
9	chr6:34524766-34524816	SK-N-SH	brain:	n/a
10	chr6:34524766-34524816	HepG2	liver:	n/a
11	chr6:34524766-34524816	HCM	heart:	n/a
12	chr6:34524766-34524816	AG09309	skin:	n/a
13	chr6:34524766-34524816	Hepatocyte	liver:	n/a
14	chr6:34524766-34524816	Jurkat	blood:	n/a
15	chr6:34524766-34524816	NB4	blood:	n/a
16	chr6:34524766-34524816	HRPEpiC	eye:	n/a
17	chr6:34524766-34524816	HNPCEpiC	eye:	n/a
18	chr6:34524766-34524816	CMK	blood:	n/a
19	chr6:34524766-34524816	A549	lung:	n/a
20	chr6:34524766-34524816	AG04450	lung:	fetal
21	chr6:34524766-34524816	HMEC	breast:	n/a
22	chr6:34524766-34524816	SKMC	muscle:	n/a
23	chr6:34524766-34524816	LNCaP	prostate:	n/a
24	chr6:34524766-34524816	AG04449	skin:	fetal
25	chr6:34524766-34524816	HUVEC	blood vessel:	n/a
26	chr6:34524766-34524816	SAEC	small airway:	n/a
27	chr6:34524766-34524816	GM19239	blood:	n/a
28	chr6:34524766-34524816	BJ	skin:	n/a
29	chr6:34524766-34524816	NH-A	brain:	n/a
30	chr6:34524766-34524816	PrEC	prostate:	n/a
31	chr6:34524766-34524816	AG10803	skin:	n/a
32	chr6:34524766-34524816	NHBE	bronchial:	n/a
33	chr6:34524766-34524816	HEEpiC	esophagus:	n/a
34	chr6:34524766-34524816	HIPEpiC	eye:	n/a
35	chr6:34524766-34524816	HRE	kidney:	n/a
36	chr6:34524766-34524816	H1-hESC	embryonic stem cell:	embryo
37	chr6:34524766-34524816	SK-N-MC	brain:	n/a
38	chr6:34524766-34524816	ECC-1	luminal epithelium:	n/a
39	chr6:34524766-34524816	SK-N-SH_RA	brain:	n/a
40	chr6:34524766-34524816	AoSMC	blood vessel:	n/a
41	chr6:34524766-34524816	GM12878	blood:	n/a
42	chr6:34524766-34524816	NT2-D1	testis:	n/a
43	chr6:34524766-34524816	HCT-116	colon:	n/a
44	chr6:34524766-34524816	MCF-7	breast:	n/a
45	chr6:34524766-34524816	MCF10A-Er-Src	breast:	n/a
46	chr6:34524766-34524816	HL-60	blood:	n/a
47	chr6:34524766-34524816	T-47D	breast:	n/a
48	chr6:34524766-34524816	RPTEC	kidney:	n/a
49	chr6:34524766-34524816	U87	brain:	n/a
50	chr6:34524766-34524816	HEK293	kidney:	embryo

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34524749..34526335-chr6:34530684..34532317,2	K562	blood:

No data

Variant related genes	Relation type
SPDEF	TF binding region
SPDEF	CpG island

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2233632	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756929	0.94[ASN][1000 genomes]
rs3756930	0.94[ASN][1000 genomes]
rs3756931	0.96[ASN][1000 genomes]
rs3798543	0.94[ASN][1000 genomes]
rs4713812	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4713813	0.92[ASN][1000 genomes]
rs4713817	0.88[ASN][1000 genomes]
rs9296119	0.89[ASN][1000 genomes]
rs9296120	0.90[ASN][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34515200-34527600	Weak transcription	Right Atrium	heart
2	chr6:34522400-34527400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:34523600-34525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:34523800-34524800	Enhancers	A549	lung
5	chr6:34523800-34524800	Bivalent Enhancer	HepG2	liver
6	chr6:34524000-34525200	Enhancers	Fetal Intestine Small	intestine
7	chr6:34524200-34524800	Enhancers	K562	blood
8	chr6:34524200-34525400	Enhancers	Colonic Mucosa	Colon
9	chr6:34524200-34525400	Enhancers	Gastric	stomach
10	chr6:34524400-34525400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:34524400-34526400	Enhancers	Stomach Mucosa	stomach
12	chr6:34524400-34527400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:34524400-34527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:34524400-34528200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:34524600-34525200	Weak transcription	Pancreas	Pancrea
16	chr6:34524600-34525400	Enhancers	Rectal Mucosa Donor 29	rectum

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