Variant report

Variant	rs416804
Chromosome Location	chr11:9744659-9744660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9742177..9744822-chr11:9746238..9748347,4	K562	blood:
2	chr11:9742177..9744822-chr11:9746238..9747827,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10770057	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840290	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840291	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840292	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042471	0.86[ASN][1000 genomes]
rs11042472	0.86[ASN][1000 genomes]
rs11042473	0.86[ASN][1000 genomes]
rs11042474	0.86[ASN][1000 genomes]
rs11042475	0.86[ASN][1000 genomes]
rs11042476	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042477	0.86[ASN][1000 genomes]
rs11042478	0.86[ASN][1000 genomes]
rs11042481	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042483	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12271923	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272107	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272167	0.93[ASN][1000 genomes]
rs12272277	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12275468	0.86[ASN][1000 genomes]
rs12280169	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12280320	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12283340	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12283521	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12289312	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12291809	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12295129	0.86[ASN][1000 genomes]
rs12421878	0.85[EUR][1000 genomes]
rs12786236	0.88[EUR][1000 genomes]
rs12789209	0.82[EUR][1000 genomes]
rs12803440	0.84[EUR][1000 genomes]
rs12805683	0.87[EUR][1000 genomes]
rs1390679	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390680	0.93[ASN][1000 genomes]
rs1390681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390682	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390683	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390684	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1435462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496477	0.93[ASN][1000 genomes]
rs1695613	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874476	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1960386	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960387	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010535	0.84[EUR][1000 genomes]
rs2088293	0.93[ASN][1000 genomes]
rs2101902	0.93[ASN][1000 genomes]
rs2132565	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132566	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132567	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2252354	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2252446	0.81[AMR][1000 genomes]
rs2336805	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453832	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454611	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2454612	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572934	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572935	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572936	0.89[ASN][1000 genomes]
rs2572937	0.89[ASN][1000 genomes]
rs2572938	0.86[ASN][1000 genomes]
rs2572939	0.86[ASN][1000 genomes]
rs2572940	0.86[ASN][1000 genomes]
rs2572941	0.86[ASN][1000 genomes]
rs2572942	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2572943	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572944	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572945	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645007	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645008	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645010	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645011	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645012	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645018	0.89[ASN][1000 genomes]
rs2645019	0.89[ASN][1000 genomes]
rs2645021	0.86[ASN][1000 genomes]
rs2645022	0.86[ASN][1000 genomes]
rs2645023	0.86[ASN][1000 genomes]
rs2645024	0.93[ASN][1000 genomes]
rs2645025	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2649046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649047	0.93[ASN][1000 genomes]
rs2649048	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34043654	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368731	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376553	0.93[ASN][1000 genomes]
rs379692	0.93[ASN][1000 genomes]
rs385846	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389534	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392815	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397250	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs397602	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs397686	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408569	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs413976	0.99[ASN][1000 genomes]
rs414109	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs416766	0.93[ASN][1000 genomes]
rs418931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419412	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422061	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424455	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428747	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429546	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431908	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435079	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441965	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs442722	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443576	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4478983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452169	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476163	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910060	0.88[EUR][1000 genomes]
rs4910491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910492	0.88[EUR][1000 genomes]
rs4910493	0.85[EUR][1000 genomes]
rs4910494	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4910495	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4910496	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910497	0.84[EUR][1000 genomes]
rs534901	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581004	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58960327	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60466677	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61878110	0.85[EUR][1000 genomes]
rs67598578	0.91[ASN][1000 genomes]
rs67867011	0.85[EUR][1000 genomes]
rs7116226	0.81[EUR][1000 genomes]
rs7117197	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72484737	0.82[ASN][1000 genomes]
rs73410140	0.86[ASN][1000 genomes]
rs7935643	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938818	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7949818	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs892853	0.84[EUR][1000 genomes]
rs892855	0.84[EUR][1000 genomes]
rs920080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs920081	0.93[ASN][1000 genomes]
rs920082	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:9717600-9751000	Weak transcription	Ovary	ovary
5	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9725200-9749600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:9725600-9748000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:9726600-9749600	Weak transcription	Liver	Liver
9	chr11:9729600-9755400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr11:9730600-9747200	Weak transcription	Pancreas	Pancrea
11	chr11:9730600-9758200	Weak transcription	Esophagus	oesophagus
12	chr11:9732000-9754000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:9733200-9754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:9733400-9749400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:9733400-9754200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:9733600-9757000	Weak transcription	Fetal Brain Female	brain
17	chr11:9733600-9761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:9733800-9759800	Weak transcription	Fetal Heart	heart
19	chr11:9737600-9748000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:9737600-9749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:9737600-9750400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:9737600-9753800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:9737600-9754200	Weak transcription	Gastric	stomach
24	chr11:9738000-9747200	Weak transcription	Fetal Stomach	stomach
25	chr11:9738000-9749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:9738000-9750400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:9738600-9752400	Weak transcription	Thymus	Thymus
28	chr11:9738800-9748000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:9738800-9748000	Weak transcription	NHEK	skin
30	chr11:9738800-9748200	Weak transcription	HSMMtube	muscle
31	chr11:9739600-9747200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:9739600-9747800	Weak transcription	Hela-S3	cervix
33	chr11:9739600-9751000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:9739800-9747800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:9739800-9748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:9739800-9748200	Weak transcription	HMEC	breast
37	chr11:9739800-9754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:9740000-9745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:9740000-9747800	Weak transcription	NH-A	brain
40	chr11:9740000-9748000	Weak transcription	NHLF	lung
41	chr11:9740000-9748400	Weak transcription	Small Intestine	intestine
42	chr11:9740000-9754000	Weak transcription	HepG2	liver
43	chr11:9740000-9758000	Weak transcription	Aorta	Aorta
44	chr11:9740000-9762000	Weak transcription	Brain Angular Gyrus	brain
45	chr11:9741000-9744800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:9741200-9751000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:9741400-9747800	Weak transcription	A549	lung
48	chr11:9741400-9749000	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:9741800-9748000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9742000-9745400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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