Variant report

Variant	rs10897459
Chromosome Location	chr11:63659778-63659779
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	MXI1	chr11:63659688-63660207	IMR90	lung:	n/a	n/a
2	REST	chr11:63659747-63660080	SK-N-SH	brain:	n/a	chr11:63659911-63659920
3	REST	chr11:63659666-63660152	SK-N-SH	brain:	n/a	chr11:63659911-63659920
4	REST	chr11:63659573-63660250	ECC-1	luminal epithelium:	n/a	chr11:63659911-63659920
5	REST	chr11:63659584-63660197	PFSK-1	brain:	n/a	chr11:63659911-63659920
6	REST	chr11:63659615-63660136	HCT-116	colon:	n/a	chr11:63659911-63659920
7	REST	chr11:63659697-63660063	H1-hESC	embryonic stem cell:	n/a	chr11:63659911-63659920
8	RUNX3	chr11:63659687-63660113	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:63659601-63659945	HepG2	liver:	n/a	n/a
10	TEAD4	chr11:63659693-63660162	A549	lung:	n/a	n/a
11	REST	chr11:63659593-63660135	PANC-1	pancreas:	n/a	chr11:63659911-63659920
12	CTCF	chr11:63659760-63659910	NHEK	skin:	n/a	n/a
13	REST	chr11:63659671-63660202	MCF-7	breast:	n/a	chr11:63659911-63659920
14	REST	chr11:63659154-63660275	HL-60	blood:	n/a	chr11:63659911-63659920
15	REST	chr11:63659740-63660028	K562	blood:	n/a	chr11:63659911-63659920
16	REST	chr11:63659775-63659972	SK-N-SH	brain:	n/a	chr11:63659911-63659920
17	REST	chr11:63659590-63660105	MCF-7	breast:	n/a	chr11:63659911-63659920
18	REST	chr11:63659711-63660104	A549	lung:	n/a	chr11:63659911-63659920
19	REST	chr11:63659699-63660101	HCT-116	colon:	n/a	chr11:63659911-63659920
20	REST	chr11:63659213-63660234	ECC-1	luminal epithelium:	n/a	chr11:63659911-63659920
21	REST	chr11:63659158-63660192	PFSK-1	brain:	n/a	chr11:63659911-63659920
22	RUNX3	chr11:63659695-63660090	GM12878	blood:	n/a	n/a
23	REST	chr11:63659701-63660101	U87	brain:	n/a	chr11:63659911-63659920
24	REST	chr11:63659701-63660117	U87	brain:	n/a	chr11:63659911-63659920
25	REST	chr11:63659737-63660070	PFSK-1	brain:	n/a	chr11:63659911-63659920
26	REST	chr11:63659730-63660055	GM12878	blood:	n/a	chr11:63659911-63659920
27	BATF	chr11:63659771-63660040	GM12878	blood:	n/a	n/a
28	REST	chr11:63659698-63660058	PFSK-1	brain:	n/a	chr11:63659911-63659920
29	REST	chr11:63659656-63660186	PANC-1	pancreas:	n/a	chr11:63659911-63659920
30	REST	chr11:63659641-63660155	HL-60	blood:	n/a	chr11:63659911-63659920
31	REST	chr11:63659766-63660068	HepG2	liver:	n/a	chr11:63659911-63659920
32	CBX3	chr11:63659764-63660104	K562	blood:	n/a	n/a
33	REST	chr11:63659591-63660143	A549	lung:	n/a	chr11:63659911-63659920
34	BATF	chr11:63659759-63660002	GM12878	blood:	n/a	n/a
35	MAX	chr11:63659754-63660067	NB4	blood:	n/a	n/a
36	REST	chr11:63659666-63660189	GM12878	blood:	n/a	chr11:63659911-63659920
37	REST	chr11:63659712-63660047	PANC-1	pancreas:	n/a	chr11:63659911-63659920
38	REST	chr11:63659673-63660094	K562	blood:	n/a	chr11:63659911-63659920
39	REST	chr11:63659741-63660073	Hela-S3	cervix:	n/a	chr11:63659911-63659920
40	REST	chr11:63659713-63660073	Hela-S3	cervix:	n/a	chr11:63659911-63659920
41	REST	chr11:63659727-63660102	H1-hESC	embryonic stem cell:	n/a	chr11:63659911-63659920
42	REST	chr11:63659671-63660105	PANC-1	pancreas:	n/a	chr11:63659911-63659920

No.	Distal block	Cell Line	Cell type
1	chr11:63656662..63659982-chr11:63664623..63666885,3	MCF-7	breast:
2	chr11:63604952..63606733-chr11:63659369..63661422,2	MCF-7	breast:
3	chr11:63654741..63658030-chr11:63658111..63661032,3	K562	blood:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10751001	0.90[EUR][1000 genomes]
rs10897456	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897465	0.81[CEU][hapmap]
rs11231623	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231628	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231637	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11231643	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11231646	0.93[TSI][hapmap]
rs11231655	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11231662	0.92[CEU][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs11231664	0.92[CEU][hapmap]
rs11231670	0.92[CEU][hapmap]
rs11231671	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs11605797	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs12417507	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12418000	0.95[ASN][1000 genomes]
rs12421757	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12786124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12792726	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793201	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12797540	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12798491	0.80[TSI][hapmap]
rs12800703	0.87[CEU][hapmap]
rs1386346	0.81[TSI][hapmap]
rs1486936	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs224173	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2318126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019785	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs320109	0.85[JPT][hapmap]
rs320156	0.81[TSI][hapmap]
rs3740636	0.83[TSI][hapmap]
rs3740637	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3850943	0.90[EUR][1000 genomes]
rs4143327	0.93[ASN][1000 genomes]
rs449047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs454474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs483340	0.81[TSI][hapmap]
rs492357	0.89[CEU][hapmap]
rs4963433	0.90[EUR][1000 genomes]
rs4980499	0.92[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4980500	0.92[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4980512	0.83[TSI][hapmap]
rs4980530	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504060	0.89[CEU][hapmap]
rs509701	0.88[CEU][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap]
rs567386	0.81[TSI][hapmap]
rs61886128	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7105288	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7112348	0.82[AMR][1000 genomes]
rs7121067	0.90[ASN][1000 genomes]
rs728919	0.83[TSI][hapmap]
rs7928919	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938498	0.81[TSI][hapmap]
rs7939416	0.84[EUR][1000 genomes]
rs928948	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63654800-63664000	Weak transcription	Fetal Brain Male	brain
2	chr11:63655800-63662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:63655800-63662600	Weak transcription	HSMMtube	muscle
4	chr11:63655800-63664200	Weak transcription	NHDF-Ad	bronchial
5	chr11:63656000-63663400	Weak transcription	Fetal Heart	heart
6	chr11:63656200-63660800	Weak transcription	Hela-S3	cervix
7	chr11:63656200-63662400	Weak transcription	NHLF	lung
8	chr11:63656200-63663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63656200-63663600	Weak transcription	Aorta	Aorta
10	chr11:63656200-63664000	Weak transcription	NH-A	brain
11	chr11:63656400-63660800	Weak transcription	A549	lung
12	chr11:63656400-63662200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:63656400-63662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:63656400-63662200	Weak transcription	Ovary	ovary
15	chr11:63656400-63662800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:63656400-63663400	Weak transcription	HSMM	muscle
17	chr11:63656400-63663400	Weak transcription	HUVEC	blood vessel
18	chr11:63656400-63665400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:63656600-63660400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:63656600-63662400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:63656600-63662400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:63656600-63662600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:63656600-63662600	Weak transcription	Osteobl	bone
24	chr11:63656600-63663800	Weak transcription	Fetal Kidney	kidney
25	chr11:63656800-63659800	Enhancers	Pancreas	Pancrea
26	chr11:63656800-63660200	Genic enhancers	Brain Anterior Caudate	brain
27	chr11:63656800-63660800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:63656800-63660800	Weak transcription	Fetal Lung	lung
29	chr11:63656800-63662200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:63656800-63662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:63656800-63662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:63656800-63662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:63656800-63663400	Weak transcription	Small Intestine	intestine
34	chr11:63656800-63665800	Weak transcription	Psoas Muscle	Psoas
35	chr11:63657000-63660000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:63657000-63660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:63657000-63662400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:63657000-63662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:63657000-63662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:63657000-63662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:63657000-63670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:63657200-63662200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:63657200-63662200	Weak transcription	Adipose Nuclei	Adipose
44	chr11:63657400-63660000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:63657400-63660200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:63657400-63660400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:63657400-63662600	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:63657400-63677800	Strong transcription	Dnd41	blood
49	chr11:63657600-63659800	Genic enhancers	Fetal Intestine Large	intestine
50	chr11:63657600-63660000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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