Variant report

Variant	rs614080
Chromosome Location	chr11:67347287-67347288
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	TEAD4	chr11:67347040-67347561	K562	blood:	n/a	n/a
2	TBL1XR1	chr11:67346577-67347377	K562	blood:	n/a	n/a
3	RAD21	chr11:67346733-67347323	H1-hESC	embryonic stem cell:	n/a	chr11:67347109-67347128
4	RAD21	chr11:67346712-67347297	GM12878	blood:	n/a	chr11:67347109-67347128
5	FOXA2	chr11:67347137-67347409	HepG2	liver:	n/a	n/a
6	MTA3	chr11:67346773-67347563	GM12878	blood:	n/a	n/a
7	JUND	chr11:67347088-67347660	K562	blood:	n/a	n/a
8	EP300	chr11:67347209-67347437	GM12878	blood:	n/a	n/a
9	CTCF	chr11:67347220-67347370	GM12869	blood:	n/a	n/a
10	RCOR1	chr11:67346582-67347527	K562	blood:	n/a	n/a
11	KAP1	chr11:67346583-67347417	HEK293	kidney:	n/a	n/a
12	RUNX3	chr11:67346987-67347544	GM12878	blood:	n/a	n/a
13	RAD21	chr11:67346908-67347358	A549	lung:	n/a	chr11:67347109-67347128
14	EBF1	chr11:67346984-67347676	GM12878	blood:	n/a	chr11:67347441-67347451 chr11:67347440-67347451
15	UBTF	chr11:67347110-67347332	K562	blood:	n/a	n/a
16	EBF1	chr11:67347191-67347509	GM12878	blood:	n/a	chr11:67347441-67347451 chr11:67347440-67347451
17	CTCF	chr11:67346554-67347714	A549	lung:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
18	RAD21	chr11:67346836-67347370	A549	lung:	n/a	chr11:67347109-67347128
19	EBF1	chr11:67347192-67347577	GM12878	blood:	n/a	chr11:67347441-67347451 chr11:67347440-67347451
20	RCOR1	chr11:67347157-67347468	K562	blood:	n/a	n/a
21	ZMIZ1	chr11:67347154-67347324	K562	blood:	n/a	n/a
22	GATA3	chr11:67346481-67347516	MCF-7	breast:	n/a	chr11:67347334-67347344 chr11:67347335-67347344
23	CTCF	chr11:67346704-67347313	K562	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
24	ZNF143	chr11:67346943-67347295	GM12878	blood:	n/a	n/a
25	EP300	chr11:67347212-67347499	K562	blood:	n/a	n/a
26	RAD21	chr11:67346880-67347314	HepG2	liver:	n/a	chr11:67347109-67347128
27	TAL1	chr11:67347193-67347393	K562	blood:	n/a	n/a
28	RUNX3	chr11:67346588-67347563	GM12878	blood:	n/a	n/a
29	CUX1	chr11:67347212-67347550	GM12878	blood:	n/a	n/a
30	RCOR1	chr11:67347021-67347300	GM12878	blood:	n/a	n/a
31	MAX	chr11:67347100-67347487	K562	blood:	n/a	n/a
32	SMC3	chr11:67346805-67347334	GM12878	blood:	n/a	chr11:67347113-67347127 chr11:67346870-67346880
33	CTCF	chr11:67346761-67347330	GM12878	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
34	STAT3	chr11:67347008-67347421	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:67347058-67347541	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
2	chr11:67307923..67310034-chr11:67344749..67347317,2	K562	blood:
3	chr11:67343427..67347334-chr11:67376017..67380328,4	K562	blood:
4	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
5	chr11:67339734..67342343-chr11:67345681..67348171,3	MCF-7	breast:
6	chr11:67345086..67348074-chr11:67348502..67351412,2	K562	blood:

Variant related genes	Relation type
GSTP1	TF binding region
ENSG00000184224	Chromatin interaction
ENSG00000244152	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000255119	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10896179	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896180	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896186	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs11227837	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12225376	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1254123	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1262166	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269981	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1531514	0.88[CHB][hapmap]
rs2008922	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276118	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs2370141	0.83[CEU][hapmap]
rs2508459	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765088	0.88[CHB][hapmap];0.85[CHD][hapmap];0.84[MKK][hapmap]
rs4147581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591434	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598811	0.81[ASN][1000 genomes]
rs611663	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs625978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638140	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640777	0.89[ASN][1000 genomes]
rs645653	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs656652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658768	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6591251	0.81[CEU][hapmap]
rs6591252	0.81[CEU][hapmap]
rs6591256	0.81[CEU][hapmap]
rs666328	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674783	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684928	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694746	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7106423	0.81[CEU][hapmap]
rs762803	0.82[CEU][hapmap]
rs7941395	0.81[CEU][hapmap]
rs7941648	0.81[CEU][hapmap]
rs7952081	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription 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 miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs614080	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs614080	ATG2A	cis	parietal	SCAN
rs614080	TBC1D10C	cis	parietal	SCAN
rs614080	RPS6KB2	cis	lymphoblastoid	seeQTL
rs614080	PTPRCAP	cis	Heart Left Ventricle	GTEx
rs614080	NDUFV1	cis	parietal	SCAN
rs614080	NUDT8	cis	Heart Left Ventricle	GTEx
rs614080	SLC29A2	cis	parietal	SCAN
rs614080	GSTP1	cis	cerebellum	SCAN
rs614080	RPS6KB2	cis	Lymphoblastoid	GTEx
rs614080	PTPRCAP	cis	Nerve Tibial	GTEx
rs614080	NRXN2	cis	cerebellum	SCAN
rs614080	RPS6KB2	cis	multi-tissue	Pritchard
rs614080	GSTP1	cis	parietal	SCAN
rs614080	RTN3	cis	parietal	SCAN
rs614080	PTPRCAP	cis	Thyroid	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67344400-67350600	Enhancers	Stomach Mucosa	stomach
2	chr11:67345000-67348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:67345400-67347400	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:67345600-67350200	Enhancers	Fetal Intestine Small	intestine
5	chr11:67346000-67348600	Enhancers	Fetal Intestine Large	intestine
6	chr11:67346000-67348800	Weak transcription	Placenta	Placenta
7	chr11:67346200-67348000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:67346600-67347400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:67346600-67347600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:67346600-67347600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr11:67346600-67347600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr11:67346600-67347600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:67346600-67347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:67346600-67347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:67346600-67347600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr11:67346800-67347400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:67346800-67347400	Enhancers	Colonic Mucosa	Colon
18	chr11:67346800-67347400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:67346800-67347400	Enhancers	Spleen	Spleen
20	chr11:67346800-67347600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:67346800-67347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr11:67346800-67347600	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr11:67346800-67347600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:67346800-67347600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:67346800-67347600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:67346800-67347600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:67346800-67347600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:67346800-67347600	Bivalent Enhancer	Fetal Thymus	thymus
29	chr11:67346800-67347600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:67346800-67347600	Flanking Active TSS	HepG2	liver
31	chr11:67346800-67347800	Enhancers	NH-A	brain
32	chr11:67346800-67350600	Enhancers	Pancreas	Pancrea
33	chr11:67346800-67351000	Enhancers	Liver	Liver
34	chr11:67347000-67347400	Flanking Active TSS	K562	blood
35	chr11:67347000-67347600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr11:67347000-67347600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:67347000-67347600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:67347000-67347600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:67347000-67347600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:67347000-67347600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr11:67347000-67347600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:67347000-67347600	Enhancers	Hela-S3	cervix
43	chr11:67347000-67347600	Bivalent Enhancer	HUVEC	blood vessel
44	chr11:67347000-67347800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:67347000-67347800	Enhancers	Gastric	stomach
46	chr11:67347000-67348200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:67347200-67347400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:67347200-67347400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:67347200-67347400	Enhancers	Primary T cells from cord blood	blood
50	chr11:67347200-67347400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links