Variant report

Variant	rs320115
Chromosome Location	chr11:63686166-63686167
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	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
2	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:63685877-63688450	HepG2	liver:	n/a	n/a
4	MAX	chr11:63686148-63688089	H1-hESC	embryonic stem cell:	n/a	chr11:63686891-63686901 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63687037-63687048 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63688023-63688033
5	YY1	chr11:63685971-63686446	H1-hESC	embryonic stem cell:	n/a	chr11:63686364-63686375 chr11:63686234-63686246 chr11:63686248-63686257
6	RFX5	chr11:63685580-63686253	Hela-S3	cervix:	n/a	n/a
7	YY1	chr11:63686086-63686456	HepG2	liver:	n/a	chr11:63686364-63686375 chr11:63686234-63686246 chr11:63686248-63686257
8	SMARCC1	chr11:63684811-63686243	Hela-S3	cervix:	n/a	n/a
9	SP1	chr11:63686133-63687304	H1-hESC	embryonic stem cell:	n/a	chr11:63686917-63686926 chr11:63686916-63686925 chr11:63686915-63686927 chr11:63686751-63686763 chr11:63686739-63686748 chr11:63686443-63686452 chr11:63686442-63686456 chr11:63686734-63686748 chr11:63687057-63687067 chr11:63686752-63686762 chr11:63686737-63686748 chr11:63686917-63686926 chr11:63686752-63686761 chr11:63686246-63686258 chr11:63686751-63686763 chr11:63686915-63686927 chr11:63686283-63686297 chr11:63686737-63686749 chr11:63686738-63686747 chr11:63686751-63686762 chr11:63686247-63686257 chr11:63686737-63686749 chr11:63686553-63686562 chr11:63686442-63686451 chr11:63686757-63686767 chr11:63686738-63686748 chr11:63686554-63686563 chr11:63686248-63686257 chr11:63686247-63686256 chr11:63686246-63686258
10	YY1	chr11:63685805-63686391	NT2-D1	testis:	n/a	chr11:63686364-63686375 chr11:63686234-63686246 chr11:63686248-63686257
11	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
12	MYC	chr11:63685250-63687411	H1-hESC	embryonic stem cell:	n/a	chr11:63686891-63686901 chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63685582-63685592 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63685551-63685562 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63685551-63685562
13	POLR2A	chr11:63684773-63686607	HCT-116	colon:	n/a	n/a
14	YY1	chr11:63686085-63686372	K562	blood:	n/a	chr11:63686234-63686246 chr11:63686248-63686257
15	TAF1	chr11:63685169-63688081	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:63685008-63688175	HCT-116	colon:	n/a	n/a
17	POLR2A	chr11:63685995-63686535	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:63684392-63686554	HCT-116	colon:	n/a	n/a
19	REST	chr11:63683413-63686259	H1-neurons	neurons:	n/a	chr11:63685888-63685898 chr11:63683931-63683944 chr11:63683635-63683648 chr11:63684423-63684436 chr11:63683688-63683701 chr11:63684253-63684266 chr11:63685102-63685115
20	MAX	chr11:63683780-63686383	HepG2	liver:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
21	YY1	chr11:63685893-63686696	H1-hESC	embryonic stem cell:	n/a	chr11:63686364-63686375 chr11:63686234-63686246 chr11:63686248-63686257
22	HCFC1	chr11:63685702-63686175	K562	blood:	n/a	n/a
23	POLR2A	chr11:63684373-63686412	Hela-S3	cervix:	n/a	n/a
24	MAX	chr11:63685045-63686201	A549	lung:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
25	TCF7L2	chr11:63684421-63687263	HCT-116	colon:	n/a	n/a
26	CHD2	chr11:63685077-63686358	H1-hESC	embryonic stem cell:	n/a	chr11:63685353-63685363
27	CTBP2	chr11:63684917-63689153	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr11:63685188-63686171	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:63685180-63688073	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:63685183-63686337	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:63684972-63689200	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr11:63686056-63686446	K562	blood:	n/a	chr11:63686364-63686375 chr11:63686234-63686246 chr11:63686248-63686257
33	POLR2A	chr11:63683767-63688286	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr11:63685170-63686172	A549	lung:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
35	MAX	chr11:63685144-63688061	H1-hESC	embryonic stem cell:	n/a	chr11:63686891-63686901 chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63685582-63685592 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687858-63687868 chr11:63687037-63687048 chr11:63685551-63685562 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63685551-63685562 chr11:63688023-63688033
36	POLR2A	chr11:63685220-63688086	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
2	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
3	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
4	chr11:63685870..63687759-chr11:63698939..63701005,2	MCF-7	breast:
5	chr11:63683781..63686730-chr11:63932079..63933586,2	K562	blood:
6	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
7	chr11:63605364..63607931-chr11:63685287..63688151,2	MCF-7	breast:
8	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
9	chr11:63663467..63666337-chr11:63684707..63687622,3	MCF-7	breast:
10	chr11:63685552..63686203-chr2:74374074..74375012,2	Hela-S3	cervix:
11	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
12	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
13	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
14	chr11:63686068..63688913-chr11:63752506..63754962,2	MCF-7	breast:
15	chr11:63686117..63687748-chr11:63991858..63993685,2	K562	blood:
16	chr11:63685160..63687637-chr11:63739324..63744119,5	K562	blood:
17	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
18	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
19	chr11:63684351..63687811-chr11:63692947..63696202,6	K562	blood:
20	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
21	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
22	chr11:63685675..63686195-chr2:136874998..136875975,2	Hela-S3	cervix:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000121966	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10897460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11231634	1.00[ASN][1000 genomes]
rs11231696	1.00[MEX][hapmap]
rs11822339	1.00[JPT][hapmap]
rs12099085	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs12271959	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs12283898	1.00[MEX][hapmap]
rs12285245	1.00[MEX][hapmap]
rs1392118	0.91[ASN][1000 genomes]
rs17403349	1.00[TSI][hapmap]
rs2036269	1.00[MEX][hapmap]
rs2133548	1.00[JPT][hapmap]
rs2622417	1.00[MEX][hapmap]
rs2701549	1.00[MEX][hapmap]
rs320110	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs57219930	1.00[ASN][1000 genomes]
rs57859020	0.87[AFR][1000 genomes]
rs58678024	1.00[ASN][1000 genomes]
rs60791209	0.91[ASN][1000 genomes]
rs61141225	0.91[ASN][1000 genomes]
rs7123788	1.00[TSI][hapmap]
rs7127354	1.00[JPT][hapmap]
rs7129685	1.00[MEX][hapmap]
rs7130187	1.00[JPT][hapmap]
rs73494120	1.00[ASN][1000 genomes]
rs7933899	1.00[TSI][hapmap]
rs7948611	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7948681	1.00[TSI][hapmap]
rs7952003	1.00[TSI][hapmap]
rs904594	0.83[GIH][hapmap]
rs9804541	1.00[TSI][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	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	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
5	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
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:63683400-63687200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:63684400-63687400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:63684600-63688400	Enhancers	Fetal Brain Male	brain
8	chr11:63684800-63687200	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr11:63684800-63687400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:63684800-63687600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:63684800-63687800	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:63684800-63688000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:63684800-63688000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:63684800-63688000	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr11:63684800-63688000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:63684800-63688200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:63684800-63688200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr11:63685000-63686200	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr11:63685000-63686200	Enhancers	HSMMtube	muscle
20	chr11:63685000-63686200	Flanking Active TSS	K562	blood
21	chr11:63685000-63686400	Flanking Active TSS	A549	lung
22	chr11:63685000-63686800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:63685000-63688400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:63685200-63686200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:63685200-63686400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr11:63685200-63686800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:63685400-63686200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:63685400-63686200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:63685400-63686200	Enhancers	NHLF	lung
30	chr11:63685400-63686400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:63685400-63686600	Enhancers	Fetal Stomach	stomach
32	chr11:63685400-63686600	Enhancers	Small Intestine	intestine
33	chr11:63685400-63686800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr11:63685400-63686800	Enhancers	Placenta	Placenta
35	chr11:63685400-63686800	Enhancers	Lung	lung
36	chr11:63685400-63687000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:63685400-63687000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:63685400-63687000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:63685400-63687000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:63685400-63687000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:63685400-63687000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:63685400-63687200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:63685400-63687200	Enhancers	Stomach Mucosa	stomach
44	chr11:63685400-63687400	Enhancers	Fetal Heart	heart
45	chr11:63685400-63687600	Enhancers	Primary B cells from cord blood	blood
46	chr11:63685400-63687600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:63685400-63688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:63685400-63688600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:63685400-63688800	Enhancers	Fetal Lung	lung
50	chr11:63685400-63689000	Enhancers	Spleen	Spleen

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