Variant report

Variant	rs2572947
Chromosome Location	chr11:9720457-9720458
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10770057	0.83[ASN][1000 genomes]
rs11042471	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042472	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042473	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042474	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042475	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042476	0.83[ASN][1000 genomes]
rs11042477	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042478	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12272167	0.91[AMR][1000 genomes]
rs12275468	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12283521	0.83[ASN][1000 genomes]
rs12291809	0.92[ASN][1000 genomes]
rs12295129	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12576997	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12577241	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1390680	0.91[AMR][1000 genomes]
rs1496477	0.91[AMR][1000 genomes]
rs2088293	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2101902	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2572936	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572937	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572938	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572939	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572940	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2572941	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572942	0.82[ASN][1000 genomes]
rs2572948	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2572949	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2572952	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645015	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645016	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645018	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2645019	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2645021	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645022	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645023	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645024	0.91[AMR][1000 genomes]
rs2649047	0.91[AMR][1000 genomes]
rs34043654	0.81[ASN][1000 genomes]
rs34780673	0.89[ASN][1000 genomes]
rs360044	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360045	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360046	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360048	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360050	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360052	0.91[ASN][1000 genomes]
rs360053	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs379692	0.83[AMR][1000 genomes]
rs416766	0.91[AMR][1000 genomes]
rs57239484	0.89[ASN][1000 genomes]
rs67598578	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72484737	0.83[AMR][1000 genomes]
rs73410140	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs920081	0.91[AMR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9704200-9723600	Weak transcription	HepG2	liver
2	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
3	chr11:9710400-9732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:9710600-9722000	Weak transcription	Fetal Brain Female	brain
5	chr11:9711200-9732800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:9711600-9723600	Weak transcription	Fetal Lung	lung
8	chr11:9711600-9724000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:9711600-9724400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:9711600-9725800	Weak transcription	HSMMtube	muscle
11	chr11:9711600-9729600	Weak transcription	Fetal Heart	heart
12	chr11:9711600-9730200	Weak transcription	Right Ventricle	heart
13	chr11:9711600-9731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:9711600-9732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:9711600-9733200	Weak transcription	Aorta	Aorta
16	chr11:9711600-9736600	Weak transcription	Gastric	stomach
17	chr11:9711800-9722000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:9713400-9724000	Weak transcription	Small Intestine	intestine
19	chr11:9713600-9723800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:9713600-9730000	Weak transcription	NH-A	brain
21	chr11:9715000-9721600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:9715000-9721800	Weak transcription	Fetal Kidney	kidney
23	chr11:9715400-9730200	Weak transcription	Pancreas	Pancrea
24	chr11:9715800-9721200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:9715800-9721800	Weak transcription	Brain Substantia Nigra	brain
26	chr11:9715800-9723800	Weak transcription	Fetal Thymus	thymus
27	chr11:9715800-9731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:9715800-9732800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:9716000-9721800	Weak transcription	Brain Angular Gyrus	brain
30	chr11:9716000-9721800	Weak transcription	Stomach Mucosa	stomach
31	chr11:9716000-9723600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:9716000-9730200	Weak transcription	Esophagus	oesophagus
33	chr11:9716000-9736600	Weak transcription	NHEK	skin
34	chr11:9716000-9738000	Weak transcription	HMEC	breast
35	chr11:9716200-9724000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:9717200-9721600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:9717400-9721800	Weak transcription	Primary T cells from cord blood	blood
38	chr11:9717400-9721800	Weak transcription	Brain Anterior Caudate	brain
39	chr11:9717600-9721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:9717600-9721800	Weak transcription	Adipose Nuclei	Adipose
41	chr11:9717600-9721800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:9717600-9721800	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:9717600-9723000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:9717600-9725000	Weak transcription	Left Ventricle	heart
45	chr11:9717600-9725000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:9717600-9731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:9717600-9733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:9717600-9736600	Weak transcription	Fetal Stomach	stomach
49	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:9717600-9739200	Weak transcription	NHLF	lung

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