Variant report

Variant	rs320110
Chromosome Location	chr11:63680297-63680298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63680261-63680301	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:63680260-63680410	HA-sp	spinal cord:	n/a	n/a
3	CTCF	chr11:63680177-63680494	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:63680220-63680370	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:63680032-63680575	K562	blood:	n/a	n/a
6	RAD21	chr11:63680123-63680600	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr11:63680276-63680384	K562	blood:	n/a	n/a
8	CTCF	chr11:63680200-63680350	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr11:63680173-63680454	K562	blood:	n/a	n/a
10	CTCF	chr11:63680280-63680430	GM12873	blood:	n/a	n/a
11	CTCF	chr11:63680280-63680430	HCT-116	colon:	n/a	n/a
12	RAD21	chr11:63680241-63680523	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:63680278-63680424	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:63680128-63680502	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:63680160-63680310	SAEC	small airway:	n/a	n/a
16	RAD21	chr11:63680287-63680477	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:63680172-63680490	K562	blood:	n/a	n/a
18	CTCFL	chr11:63680216-63680428	K562	blood:	n/a	n/a
19	POLR2A	chr11:63680252-63680567	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:63680032-63680601	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:63680154-63680507	K562	blood:	n/a	n/a
22	CTCF	chr11:63680160-63680310	HMF	breast:	n/a	n/a
23	POLR2A	chr11:63678720-63680642	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr11:63680258-63680430	HepG2	liver:	n/a	n/a
25	CTCF	chr11:63680288-63680443	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr11:63680276-63680474	K562	blood:	n/a	n/a
27	CUX1	chr11:63680258-63680444	K562	blood:	n/a	n/a
28	CTCF	chr11:63680278-63680414	HepG2	liver:	n/a	n/a
29	RAD21	chr11:63680244-63680454	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:63680214-63680485	K562	blood:	n/a	n/a
31	CTCF	chr11:63680280-63680430	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCFL	chr11:63680267-63680445	K562	blood:	n/a	n/a
33	MAZ	chr11:63680250-63680332	K562	blood:	n/a	n/a
34	POLR2A	chr11:63680280-63680530	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:63680254-63680594	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:63680274-63680323	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr11:63680287-63680453	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:63679530-63680488	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:63679828-63680500	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
2	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:

No data

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10897460	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231632	1.00[EUR][1000 genomes]
rs11231634	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822339	1.00[JPT][hapmap]
rs12099085	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271959	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277386	1.00[EUR][1000 genomes]
rs12277838	1.00[EUR][1000 genomes]
rs12288290	1.00[EUR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs1392118	0.91[ASN][1000 genomes]
rs17403349	1.00[TSI][hapmap]
rs2133548	1.00[JPT][hapmap]
rs320115	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs3802940	1.00[MEX][hapmap]
rs4472946	1.00[MEX][hapmap]
rs57219930	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59642000	1.00[EUR][1000 genomes]
rs60107756	1.00[EUR][1000 genomes]
rs60791209	0.91[ASN][1000 genomes]
rs61141225	0.91[ASN][1000 genomes]
rs61475860	1.00[EUR][1000 genomes]
rs684865	1.00[TSI][hapmap]
rs7110433	1.00[EUR][1000 genomes]
rs7123788	1.00[TSI][hapmap]
rs7127354	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7130187	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs73494120	1.00[ASN][1000 genomes]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7948681	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7952003	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
rs9804541	1.00[TSI][hapmap]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[EUR][1000 genomes]

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
3	chr11:63664600-63680400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:63669600-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:63670000-63683200	Weak transcription	K562	blood
6	chr11:63670000-63683400	Weak transcription	HSMM	muscle
7	chr11:63670800-63681600	Weak transcription	GM12878-XiMat	blood
8	chr11:63671000-63681800	Weak transcription	HUVEC	blood vessel
9	chr11:63671000-63683800	Weak transcription	NHDF-Ad	bronchial
10	chr11:63672200-63682600	Weak transcription	HepG2	liver
11	chr11:63672200-63682600	Weak transcription	NH-A	brain
12	chr11:63672400-63683200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:63672400-63683800	Weak transcription	Psoas Muscle	Psoas
14	chr11:63673200-63680400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63673200-63682600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:63673200-63683200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:63673800-63682800	Weak transcription	Osteobl	bone
18	chr11:63676200-63683400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63676400-63682800	Weak transcription	Right Atrium	heart
20	chr11:63676400-63683400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:63676400-63683400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:63676600-63681200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:63676600-63682600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:63676600-63682600	Weak transcription	Stomach Mucosa	stomach
25	chr11:63676600-63683400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:63676600-63683400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:63676600-63684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:63676600-63684000	Weak transcription	Aorta	Aorta
29	chr11:63676800-63682600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:63676800-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:63676800-63683200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:63676800-63683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:63676800-63683400	Weak transcription	HMEC	breast
34	chr11:63677000-63683400	Weak transcription	Hela-S3	cervix
35	chr11:63677000-63683600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:63677200-63680600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:63677400-63682600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:63677600-63682400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:63677600-63682400	Strong transcription	Fetal Intestine Small	intestine
40	chr11:63677600-63682600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:63677600-63683400	Weak transcription	Ovary	ovary
42	chr11:63677800-63680600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:63677800-63681400	Genic enhancers	Brain Germinal Matrix	brain
44	chr11:63677800-63682600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:63677800-63682600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:63677800-63682600	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:63677800-63682600	Weak transcription	Esophagus	oesophagus
48	chr11:63677800-63683200	Weak transcription	Dnd41	blood
49	chr11:63677800-63683400	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:63677800-63683400	Weak transcription	Rectal Mucosa Donor 29	rectum

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