Variant report

Variant	rs11231600
Chromosome Location	chr11:63602112-63602113
allele	A/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	FOXA1	chr11:63602103-63602515	HepG2	liver:	n/a	n/a
2	RAD21	chr11:63602108-63602456	HepG2	liver:	n/a	n/a
3	FOXA2	chr11:63602070-63602331	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:63602015-63602444	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:63602025-63602365	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:63602058-63602327	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63533005..63535080-chr11:63601950..63603947,2	MCF-7	breast:
2	chr11:63597538..63602989-chr11:63603448..63608044,6	K562	blood:
3	chr11:63601389..63603149-chr11:63706339..63708895,2	K562	blood:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000072518	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000188070	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10736731	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751001	0.84[ASN][1000 genomes]
rs10792421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10792422	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10792423	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10897452	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897453	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10897454	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11231606	0.85[EUR][1000 genomes]
rs11231624	0.88[EUR][1000 genomes]
rs11231628	1.00[JPT][hapmap]
rs11231637	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11231640	0.89[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11605500	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12277481	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12576275	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1486936	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1872772	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2840079	0.89[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs320109	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3802941	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3850943	0.84[ASN][1000 genomes]
rs4143327	0.87[EUR][1000 genomes]
rs4963433	0.84[ASN][1000 genomes]
rs4980503	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4980505	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4980507	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4980528	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4980529	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4980532	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4980533	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61604723	0.82[EUR][1000 genomes]
rs6421686	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6591825	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7102006	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7105288	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7108375	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7110843	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7118913	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7121067	0.81[EUR][1000 genomes]
rs7937314	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7939351	0.83[EUR][1000 genomes]
rs7944519	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7946503	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7948656	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs923247	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs928948	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63582200-63604600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63582400-63604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:63582600-63604800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:63582600-63604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:63583600-63604600	Weak transcription	Fetal Brain Male	brain
6	chr11:63584200-63604600	Weak transcription	Fetal Heart	heart
7	chr11:63584200-63604800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:63588800-63604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:63589200-63605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:63590600-63604600	Weak transcription	K562	blood
11	chr11:63590800-63605200	Weak transcription	Small Intestine	intestine
12	chr11:63591000-63604600	Weak transcription	HMEC	breast
13	chr11:63591000-63604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:63592000-63604600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:63592400-63604600	Weak transcription	Fetal Kidney	kidney
16	chr11:63592600-63602200	Weak transcription	Colonic Mucosa	Colon
17	chr11:63592600-63604800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:63592600-63604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:63592800-63604400	Weak transcription	Hela-S3	cervix
20	chr11:63592800-63604600	Weak transcription	Pancreas	Pancrea
21	chr11:63592800-63604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:63592800-63605000	Weak transcription	Liver	Liver
23	chr11:63593000-63604600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:63593000-63604600	Weak transcription	NHEK	skin
25	chr11:63593000-63605200	Weak transcription	NHDF-Ad	bronchial
26	chr11:63593000-63606400	Weak transcription	Aorta	Aorta
27	chr11:63593200-63604800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:63594000-63604600	Weak transcription	Stomach Mucosa	stomach
29	chr11:63594000-63605600	Weak transcription	HSMMtube	muscle
30	chr11:63594200-63605000	Weak transcription	Fetal Lung	lung
31	chr11:63594200-63605200	Weak transcription	NH-A	brain
32	chr11:63594200-63605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:63594400-63604800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:63594400-63604800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:63594400-63604800	Weak transcription	HUVEC	blood vessel
36	chr11:63594400-63605000	Weak transcription	Brain Angular Gyrus	brain
37	chr11:63594400-63605400	Weak transcription	HSMM	muscle
38	chr11:63594400-63605400	Weak transcription	Osteobl	bone
39	chr11:63594600-63602200	Weak transcription	HepG2	liver
40	chr11:63594600-63604400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:63594600-63604600	Weak transcription	Brain Substantia Nigra	brain
42	chr11:63594600-63605000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:63594600-63606400	Weak transcription	Ovary	ovary
44	chr11:63594800-63604600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:63594800-63605000	Weak transcription	A549	lung
46	chr11:63595000-63602800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:63595000-63604400	Weak transcription	Gastric	stomach
48	chr11:63595000-63604800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:63595200-63604600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:63595200-63604600	Weak transcription	Rectal Mucosa Donor 29	rectum

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