Variant report

Variant	rs11182966
Chromosome Location	chr12:45696706-45696707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1015626	0.89[EUR][1000 genomes]
rs10459293	0.80[AMR][1000 genomes]
rs10459295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10492284	0.80[AMR][1000 genomes]
rs10785566	0.89[EUR][1000 genomes]
rs10880765	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880766	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182903	0.80[AMR][1000 genomes]
rs11182912	0.80[AMR][1000 genomes]
rs11182916	0.80[AMR][1000 genomes]
rs11182917	0.80[AMR][1000 genomes]
rs11182931	0.80[AMR][1000 genomes]
rs11182941	0.80[AMR][1000 genomes]
rs11182943	0.80[AMR][1000 genomes]
rs11182947	0.80[ASN][1000 genomes]
rs11182953	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182954	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182955	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182957	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182961	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182973	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182974	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182981	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11561532	0.80[AMR][1000 genomes]
rs11611509	0.80[AMR][1000 genomes]
rs11612203	0.80[AMR][1000 genomes]
rs11614082	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12226944	0.80[AMR][1000 genomes]
rs12227678	0.80[AMR][1000 genomes]
rs12228399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228733	0.80[AMR][1000 genomes]
rs12814332	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12815334	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12815723	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12818421	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1399721	0.89[EUR][1000 genomes]
rs17095557	0.80[AMR][1000 genomes]
rs1913692	0.89[EUR][1000 genomes]
rs2012937	0.89[EUR][1000 genomes]
rs34024171	0.80[AMR][1000 genomes]
rs34759896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35054776	0.80[AMR][1000 genomes]
rs35400022	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759081	0.80[AMR][1000 genomes]
rs4326862	0.82[EUR][1000 genomes]
rs4768598	0.87[EUR][1000 genomes]
rs4768601	0.87[EUR][1000 genomes]
rs4768602	0.89[EUR][1000 genomes]
rs4768603	0.89[EUR][1000 genomes]
rs57560057	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57797434	0.80[AMR][1000 genomes]
rs61923810	0.80[AMR][1000 genomes]
rs61923830	0.80[AMR][1000 genomes]
rs6582541	0.87[EUR][1000 genomes]
rs7136368	0.82[EUR][1000 genomes]
rs7138247	0.87[EUR][1000 genomes]
rs728590	0.89[EUR][1000 genomes]
rs7307262	0.89[EUR][1000 genomes]
rs7309615	0.82[EUR][1000 genomes]
rs7310046	0.89[EUR][1000 genomes]
rs7965430	0.84[EUR][1000 genomes]

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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:45675800-45709000	Weak transcription	Lung	lung
7	chr12:45676400-45697800	Weak transcription	Dnd41	blood
8	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
11	chr12:45680400-45697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:45681000-45698200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:45681200-45697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
16	chr12:45685800-45697800	Weak transcription	GM12878-XiMat	blood
17	chr12:45685800-45698200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:45686200-45707000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:45687000-45697200	Weak transcription	Aorta	Aorta
20	chr12:45690600-45697800	Weak transcription	Liver	Liver
21	chr12:45691000-45708600	Weak transcription	Stomach Mucosa	stomach
22	chr12:45691000-45708800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:45692400-45709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:45692800-45707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:45693000-45697000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:45693000-45707400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:45693200-45696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:45693200-45697400	Weak transcription	Psoas Muscle	Psoas
31	chr12:45693200-45697800	Weak transcription	Fetal Brain Male	brain
32	chr12:45693200-45697800	Weak transcription	Fetal Intestine Large	intestine
33	chr12:45693200-45703600	Weak transcription	HSMM	muscle
34	chr12:45693200-45708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
36	chr12:45693400-45696800	Weak transcription	A549	lung
37	chr12:45693400-45697400	Weak transcription	Fetal Lung	lung
38	chr12:45693400-45698000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:45693400-45698000	Weak transcription	Fetal Stomach	stomach
40	chr12:45693400-45702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:45693600-45696800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:45693600-45697200	Weak transcription	Left Ventricle	heart
43	chr12:45693600-45697800	Weak transcription	Adipose Nuclei	Adipose
44	chr12:45693600-45698000	Weak transcription	Placenta	Placenta
45	chr12:45693600-45698000	Weak transcription	Pancreas	Pancrea
46	chr12:45693600-45703000	Weak transcription	NHLF	lung
47	chr12:45693600-45703000	Weak transcription	Osteobl	bone
48	chr12:45693600-45707000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:45693600-45707600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:45693600-45709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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