Variant report

Variant	rs4980532
Chromosome Location	chr11:63680719-63680720
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	POLR2A	chr11:63680680-63681300	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:63680311-63680846	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:

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

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10736731	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751001	0.85[ASN][1000 genomes]
rs10792421	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10792422	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792423	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10897452	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897453	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10897454	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11231600	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231624	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11231628	0.90[ASN][1000 genomes]
rs11231637	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11231640	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11605500	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277481	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576275	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1486936	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1872772	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2840079	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs320109	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3802941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3850943	0.85[ASN][1000 genomes]
rs4143327	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4963433	0.85[ASN][1000 genomes]
rs4980503	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4980505	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980507	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980528	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980529	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6421686	0.87[EUR][1000 genomes]
rs6591825	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7102006	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7105288	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7108375	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110843	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118913	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121067	0.93[EUR][1000 genomes]
rs7937314	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7939416	0.80[ASN][1000 genomes]
rs7944519	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948656	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs923247	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs928948	0.90[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
2	chr11:63669600-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:63670000-63683200	Weak transcription	K562	blood
4	chr11:63670000-63683400	Weak transcription	HSMM	muscle
5	chr11:63670800-63681600	Weak transcription	GM12878-XiMat	blood
6	chr11:63671000-63681800	Weak transcription	HUVEC	blood vessel
7	chr11:63671000-63683800	Weak transcription	NHDF-Ad	bronchial
8	chr11:63672200-63682600	Weak transcription	HepG2	liver
9	chr11:63672200-63682600	Weak transcription	NH-A	brain
10	chr11:63672400-63683200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:63672400-63683800	Weak transcription	Psoas Muscle	Psoas
12	chr11:63673200-63682600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:63673200-63683200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:63673800-63682800	Weak transcription	Osteobl	bone
15	chr11:63676200-63683400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:63676400-63682800	Weak transcription	Right Atrium	heart
17	chr11:63676400-63683400	Weak transcription	Brain Substantia Nigra	brain
18	chr11:63676400-63683400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:63676600-63681200	Weak transcription	Brain Anterior Caudate	brain
20	chr11:63676600-63682600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:63676600-63682600	Weak transcription	Stomach Mucosa	stomach
22	chr11:63676600-63683400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:63676600-63683400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:63676600-63684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:63676600-63684000	Weak transcription	Aorta	Aorta
26	chr11:63676800-63682600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:63676800-63683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:63676800-63683200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:63676800-63683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:63676800-63683400	Weak transcription	HMEC	breast
31	chr11:63677000-63683400	Weak transcription	Hela-S3	cervix
32	chr11:63677000-63683600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:63677400-63682600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:63677600-63682400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:63677600-63682400	Strong transcription	Fetal Intestine Small	intestine
36	chr11:63677600-63682600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:63677600-63683400	Weak transcription	Ovary	ovary
38	chr11:63677800-63681400	Genic enhancers	Brain Germinal Matrix	brain
39	chr11:63677800-63682600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:63677800-63682600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:63677800-63682600	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:63677800-63682600	Weak transcription	Esophagus	oesophagus
43	chr11:63677800-63683200	Weak transcription	Dnd41	blood
44	chr11:63677800-63683400	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:63677800-63683400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:63678000-63681400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:63678000-63681400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:63678000-63681600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:63678000-63682200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:63678000-63682400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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