Variant report

Variant	rs612163
Chromosome Location	chr11:86208334-86208335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10431169	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs10501619	1.00[CEU][hapmap]
rs10501620	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[AMR][1000 genomes]
rs10501621	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs10898480	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs147045	0.90[CHB][hapmap]
rs1791443	0.88[ASN][1000 genomes]
rs1841066	0.95[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs2279046	0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs2446226	0.82[ASN][1000 genomes]
rs2446228	0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[ASN][1000 genomes]
rs2446229	0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[ASN][1000 genomes]
rs2446231	0.86[ASN][1000 genomes]
rs2511090	0.86[ASN][1000 genomes]
rs3781812	0.86[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap]
rs498981	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs501362	0.83[ASN][1000 genomes]
rs502749	0.85[ASN][1000 genomes]
rs503583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509870	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs511884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs525764	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531908	0.83[ASN][1000 genomes]
rs535652	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs553351	0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs561237	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs582976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584068	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs585527	0.84[ASN][1000 genomes]
rs588287	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs589174	0.95[CHB][hapmap]
rs589368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590401	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs593853	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs594106	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs596056	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs597296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597793	0.84[ASN][1000 genomes]
rs598187	0.84[ASN][1000 genomes]
rs601300	0.91[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs601824	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs603890	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605251	0.95[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap]
rs605618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606546	0.82[ASN][1000 genomes]
rs609848	0.95[CHB][hapmap];0.94[CHD][hapmap];0.86[ASN][1000 genomes]
rs610842	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[ASN][1000 genomes]
rs613412	0.86[ASN][1000 genomes]
rs61598129	0.85[AMR][1000 genomes]
rs616018	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs618513	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap]
rs61904415	0.97[ASN][1000 genomes]
rs619195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619472	0.89[ASN][1000 genomes]
rs623478	0.95[CHB][hapmap];0.94[CHD][hapmap];0.86[ASN][1000 genomes]
rs624236	0.86[ASN][1000 genomes]
rs624843	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs624870	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs625925	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs628406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs628449	0.83[ASN][1000 genomes]
rs630438	0.88[ASN][1000 genomes]
rs632538	0.82[ASN][1000 genomes]
rs634509	0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs635934	0.86[ASN][1000 genomes]
rs636485	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638041	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638135	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs640310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642278	0.82[ASN][1000 genomes]
rs643950	0.97[ASN][1000 genomes]
rs644086	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[ASN][1000 genomes]
rs646691	0.86[ASN][1000 genomes]
rs646798	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648798	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs651089	0.95[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap]
rs653779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655868	0.96[ASN][1000 genomes]
rs655934	0.95[CHB][hapmap];0.94[CHD][hapmap];0.85[ASN][1000 genomes]
rs658166	0.86[ASN][1000 genomes]
rs659405	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs659700	0.87[ASN][1000 genomes]
rs660893	0.80[ASN][1000 genomes]
rs661083	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661972	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662361	0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs663262	0.82[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs668270	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668272	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs670602	0.88[ASN][1000 genomes]
rs674250	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677700	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs679076	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679382	0.86[ASN][1000 genomes]
rs680846	0.96[ASN][1000 genomes]
rs681158	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687804	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs689039	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs694952	0.86[ASN][1000 genomes]
rs7130920	0.95[CHB][hapmap];0.94[CHD][hapmap];0.85[ASN][1000 genomes]
rs9645702	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv274960	chr11:86207030-86209556	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:86181800-86208800	Weak transcription	Gastric	stomach
5	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
12	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
15	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:86198600-86208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
21	chr11:86199000-86208400	Weak transcription	A549	lung
22	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:86202400-86208400	Weak transcription	Fetal Brain Female	brain
24	chr11:86202400-86208400	Weak transcription	HUVEC	blood vessel
25	chr11:86202400-86210000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:86202600-86208400	Weak transcription	Spleen	Spleen
27	chr11:86202600-86208400	Weak transcription	NHDF-Ad	bronchial
28	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
29	chr11:86203200-86208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:86204000-86209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:86204200-86210800	Weak transcription	Fetal Heart	heart
33	chr11:86204400-86208400	Weak transcription	Stomach Mucosa	stomach
34	chr11:86204400-86208600	Weak transcription	Aorta	Aorta
35	chr11:86204600-86208600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
37	chr11:86204800-86208400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:86204800-86209200	Weak transcription	Left Ventricle	heart
39	chr11:86206200-86209000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr11:86206400-86208600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:86206600-86210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:86206600-86210600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:86206800-86208400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:86206800-86214200	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:86206800-86214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:86206800-86214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:86207000-86208400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:86207000-86208400	Weak transcription	Ovary	ovary
49	chr11:86207000-86208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:86207000-86213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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