Variant report

Variant	rs291220
Chromosome Location	chr11:86035517-86035518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86010873..86013514-chr11:86034864..86037459,2	K562	blood:

Variant related genes	Relation type
ENSG00000149196	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10751138	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10792847	0.85[CHD][hapmap];0.81[TSI][hapmap]
rs10792852	0.87[ASN][1000 genomes]
rs10898450	0.84[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs10898454	0.80[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs10898455	0.80[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11234583	0.93[CHB][hapmap]
rs11234595	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11234619	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234621	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234623	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234625	0.87[ASN][1000 genomes]
rs11825046	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1215001	0.91[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs12225782	0.93[CHB][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs12577739	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1376947	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1391221	0.80[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs19039	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs2600950	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2600951	0.81[CHD][hapmap];0.81[TSI][hapmap]
rs2646727	0.81[CHD][hapmap];0.81[TSI][hapmap]
rs2646732	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2847470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2847471	0.81[CHD][hapmap];0.81[TSI][hapmap]
rs291196	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs291203	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291211	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291215	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291222	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291225	0.81[AMR][1000 genomes]
rs291227	0.83[AMR][1000 genomes]
rs291228	0.91[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.89[TSI][hapmap]
rs291230	0.87[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs291231	0.91[CEU][hapmap];0.98[TSI][hapmap]
rs291233	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs291234	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap]
rs291235	0.84[CEU][hapmap]
rs291236	0.83[CEU][hapmap];0.95[TSI][hapmap]
rs291237	0.92[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs291238	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs291242	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs291247	0.82[ASN][1000 genomes]
rs291251	0.93[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs291252	0.80[TSI][hapmap]
rs35254887	0.97[EUR][1000 genomes]
rs4944567	0.81[ASN][1000 genomes]
rs4944569	0.87[ASN][1000 genomes]
rs61904310	0.81[EUR][1000 genomes]
rs6592286	0.84[ASN][1000 genomes]
rs6592287	0.86[ASN][1000 genomes]
rs7106569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7117195	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7124620	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7480354	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7937189	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7937597	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7948056	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949770	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 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	chr11:86014200-86052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:86014200-86055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:86014200-86057400	Weak transcription	Aorta	Aorta
4	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
5	chr11:86014600-86045600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:86014600-86045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:86014600-86045800	Weak transcription	Right Ventricle	heart
8	chr11:86014600-86048400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:86014600-86048800	Weak transcription	Thymus	Thymus
10	chr11:86014600-86049000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:86014600-86049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:86014600-86066400	Weak transcription	Fetal Kidney	kidney
13	chr11:86014800-86035800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:86014800-86036000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:86014800-86040600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:86014800-86045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:86014800-86049000	Weak transcription	Hela-S3	cervix
18	chr11:86014800-86049200	Weak transcription	HUVEC	blood vessel
19	chr11:86014800-86058600	Weak transcription	NHLF	lung
20	chr11:86015000-86036000	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:86015000-86046000	Weak transcription	NHEK	skin
22	chr11:86015000-86061000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:86015200-86045800	Weak transcription	Osteobl	bone
24	chr11:86015200-86051400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:86015400-86036200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:86015400-86045800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:86015400-86048400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:86015400-86049000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:86015400-86059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:86015600-86048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:86020400-86057200	Weak transcription	Small Intestine	intestine
32	chr11:86022000-86048800	Weak transcription	Gastric	stomach
33	chr11:86022000-86061000	Weak transcription	Esophagus	oesophagus
34	chr11:86023800-86061200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:86024000-86042600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:86024200-86052200	Weak transcription	Colonic Mucosa	Colon
37	chr11:86024600-86057400	Weak transcription	Pancreas	Pancrea
38	chr11:86025000-86061600	Weak transcription	Psoas Muscle	Psoas
39	chr11:86025200-86035800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:86025200-86057800	Weak transcription	HepG2	liver
41	chr11:86026000-86036600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:86026000-86046000	Weak transcription	HMEC	breast
43	chr11:86026000-86049000	Weak transcription	K562	blood
44	chr11:86026200-86035600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:86026800-86037400	Strong transcription	Fetal Stomach	stomach
46	chr11:86027400-86035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:86027400-86040000	Weak transcription	NHDF-Ad	bronchial
48	chr11:86028400-86048800	Weak transcription	Spleen	Spleen
49	chr11:86028400-86059200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:86029600-86036600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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