Variant report

Variant	rs2289981
Chromosome Location	chr11:36253128-36253129
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36247801..36250240-chr11:36251236..36253769,3	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs11033500	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11033501	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11033503	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11033504	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11033508	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11551023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11600365	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11601619	0.82[EUR][1000 genomes]
rs11602141	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11603025	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11603810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605921	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11605927	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11605931	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11605941	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11606476	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11606598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607231	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420852	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12421151	0.86[EUR][1000 genomes]
rs12421199	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12421400	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574172	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12574173	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12574419	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12575304	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12575540	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12577437	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1405095	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446672	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1526058	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526059	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16928513	0.85[EUR][1000 genomes]
rs16928514	0.85[EUR][1000 genomes]
rs16928552	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2289980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34213469	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34892666	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3812769	0.85[EUR][1000 genomes]
rs3812771	0.85[EUR][1000 genomes]
rs3812772	0.85[EUR][1000 genomes]
rs4417242	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4417243	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4468324	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4485080	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4611176	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58048041	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58356552	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58648806	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58707777	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59051429	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59137935	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59307065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60008257	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60544801	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60759289	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60823142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61254236	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61627540	0.92[AMR][1000 genomes]
rs61879013	1.00[AFR][1000 genomes]
rs61879034	0.85[EUR][1000 genomes]
rs61879035	0.85[EUR][1000 genomes]
rs61879036	0.85[EUR][1000 genomes]
rs61879037	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61879038	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879039	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879040	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879041	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879261	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879262	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879263	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61879264	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879265	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879266	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879267	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879268	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879269	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879270	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879271	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879272	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879273	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879274	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879275	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61879277	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61879278	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61879279	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61881463	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881464	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881465	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61881468	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61881469	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61881470	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61881476	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61881477	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881478	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881484	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881485	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881487	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110064	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937449	0.85[EUR][1000 genomes]
rs72937454	0.85[EUR][1000 genomes]
rs72937494	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72939309	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72941791	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs872534	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs921085	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940923	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36234800-36254000	Weak transcription	Right Atrium	heart
2	chr11:36235800-36260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:36236800-36273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:36240400-36253800	Weak transcription	Psoas Muscle	Psoas
5	chr11:36243800-36254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:36244600-36253800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:36245000-36253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:36245000-36260800	Weak transcription	Fetal Brain Male	brain
9	chr11:36245200-36261400	Weak transcription	NHEK	skin
10	chr11:36246800-36257400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:36247000-36253800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:36247800-36253600	Weak transcription	Brain Substantia Nigra	brain
13	chr11:36248800-36257600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:36249000-36254800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:36249000-36262800	Weak transcription	Spleen	Spleen
16	chr11:36249200-36254000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:36249600-36259800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:36250200-36255600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:36250800-36257400	Weak transcription	HMEC	breast
20	chr11:36250800-36270600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:36251000-36253400	Enhancers	Osteobl	bone
22	chr11:36251000-36254400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:36251000-36258000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:36251200-36253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:36251200-36253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:36251400-36255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:36251600-36254400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:36251800-36255200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:36252000-36253600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:36252000-36253600	Enhancers	NH-A	brain
31	chr11:36252000-36254400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:36252000-36257200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:36252200-36253400	Enhancers	HSMM	muscle
34	chr11:36252200-36254000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:36252200-36254000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:36252200-36254000	Enhancers	NHDF-Ad	bronchial
37	chr11:36252200-36254200	Enhancers	Fetal Lung	lung
38	chr11:36252200-36254400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:36252200-36260800	Weak transcription	Fetal Intestine Small	intestine
40	chr11:36252200-36270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:36252200-36277800	Weak transcription	Esophagus	oesophagus
42	chr11:36252400-36253400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:36252400-36253600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:36252400-36253800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:36252400-36254600	Enhancers	HUVEC	blood vessel
46	chr11:36252400-36254800	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:36252600-36253400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:36252600-36253800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:36252600-36254400	Enhancers	Fetal Heart	heart
50	chr11:36252600-36255200	Enhancers	Cortex derived primary cultured neurospheres	brain

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