Variant report

Variant	rs11163980
Chromosome Location	chr1:84950681-84950682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11163969	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11163970	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11163971	0.81[CHB][hapmap]
rs11163972	0.81[CHB][hapmap]
rs11163979	1.00[ASN][1000 genomes]
rs11163981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11163990	0.96[ASN][1000 genomes]
rs11163994	1.00[ASN][1000 genomes]
rs11163999	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1123981	0.81[CHB][hapmap]
rs1144276	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586006	0.81[CHB][hapmap]
rs12036957	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040469	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071149	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124731	0.81[CHB][hapmap]
rs12126584	0.81[CHB][hapmap]
rs12126924	0.81[CHB][hapmap]
rs12128801	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136756	0.81[CHB][hapmap]
rs12403545	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246159	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246236	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1246253	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246254	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs1246255	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1400777	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1506707	0.81[CHB][hapmap]
rs1533374	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110519	0.81[CHB][hapmap]
rs1911159	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2271620	0.81[CHB][hapmap]
rs2292191	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303306	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2389743	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659173	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677839	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794217	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794218	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911589	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2911590	0.81[CHB][hapmap]
rs2911593	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2945155	0.81[CHB][hapmap]
rs2994953	0.81[CHB][hapmap]
rs2994954	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2994955	0.88[ASN][1000 genomes]
rs3021402	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs312395	0.81[CHB][hapmap]
rs312397	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813605	0.81[CHB][hapmap]
rs4906995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4906997	0.87[ASN][1000 genomes]
rs4907078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6576713	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576715	0.82[ASN][1000 genomes]
rs6692765	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6704211	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7512922	0.81[CHB][hapmap]
rs7514763	0.81[CHB][hapmap]
rs7516200	0.92[ASN][1000 genomes]
rs7519606	0.81[CHB][hapmap]
rs7537818	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9645393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:84946000-84956400	Weak transcription	Gastric	stomach
3	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
4	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
7	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:84946200-84955200	Weak transcription	Right Ventricle	heart
10	chr1:84946200-84956200	Weak transcription	Colonic Mucosa	Colon
11	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
12	chr1:84946400-84955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:84946400-84955600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:84946400-84956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:84946400-84956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:84946400-84962000	Weak transcription	Fetal Brain Male	brain
17	chr1:84946400-84962800	Weak transcription	Stomach Mucosa	stomach
18	chr1:84946600-84950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:84946600-84955600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:84946600-84956400	Weak transcription	Psoas Muscle	Psoas
21	chr1:84946800-84955400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:84946800-84967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:84947000-84953200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:84947000-84965800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:84947200-84951000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:84947200-84951200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:84947200-84951600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:84947200-84951800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:84947200-84952000	Strong transcription	Fetal Thymus	thymus
30	chr1:84947200-84953800	Strong transcription	Primary B cells from cord blood	blood
31	chr1:84947200-84955400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:84947200-84955600	Weak transcription	Pancreas	Pancrea
33	chr1:84947200-84955600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:84947200-84956400	Weak transcription	Brain Angular Gyrus	brain
35	chr1:84947200-84956400	Weak transcription	NHLF	lung
36	chr1:84947200-84958400	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:84947400-84951200	Weak transcription	Fetal Lung	lung
38	chr1:84947400-84951800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:84947400-84952000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:84947400-84955000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:84947400-84955200	Weak transcription	Ovary	ovary
42	chr1:84947400-84955200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:84947400-84955200	Weak transcription	Small Intestine	intestine
44	chr1:84947400-84955800	Weak transcription	HMEC	breast
45	chr1:84947400-84957200	Weak transcription	Fetal Heart	heart
46	chr1:84947400-84957600	Weak transcription	Lung	lung
47	chr1:84947400-84969800	Weak transcription	Aorta	Aorta
48	chr1:84947600-84950800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:84947600-84951200	Strong transcription	Dnd41	blood
50	chr1:84947600-84951400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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