Variant report

Variant	rs7126328
Chromosome Location	chr11:120244577-120244578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120227696..120230495-chr11:120243268..120245330,2	K562	blood:
2	chr11:120243305..120247442-chr11:120248031..120252040,4	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10750172	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10750173	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10750174	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10790378	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10790380	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10790382	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10790383	0.85[EUR][1000 genomes]
rs10892562	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10892563	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892564	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892566	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10892567	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892570	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892574	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892576	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10892578	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10892582	0.86[EUR][1000 genomes]
rs11217821	0.83[AMR][1000 genomes]
rs11217840	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217841	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217852	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11600703	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11601535	0.87[EUR][1000 genomes]
rs12361632	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12417256	0.87[EUR][1000 genomes]
rs12417581	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12420378	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12787285	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12794946	0.83[EUR][1000 genomes]
rs12806740	0.82[AMR][1000 genomes]
rs1373270	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1892894	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893261	0.83[AMR][1000 genomes]
rs2305008	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2305010	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34298380	0.82[AMR][1000 genomes]
rs36011588	0.81[AMR][1000 genomes]
rs4381380	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4539328	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4936517	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938799	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4938801	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938804	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4938805	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4938806	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4938808	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61898351	0.83[AMR][1000 genomes]
rs6589810	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6589811	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6589812	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6589813	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7101415	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7104639	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7107211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7115714	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7117063	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7117321	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118391	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7121779	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7131046	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7131597	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs723937	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7478880	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7924772	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7924963	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7924975	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7932037	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7932658	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7933086	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7937612	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7939137	0.85[EUR][1000 genomes]
rs7948928	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7951250	0.85[AMR][1000 genomes]
rs7952529	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs894839	0.86[EUR][1000 genomes]
rs9633919	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9633950	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:120217600-120257000	Weak transcription	HSMM	muscle
3	chr11:120224800-120248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:120225000-120248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:120226400-120246800	Weak transcription	Small Intestine	intestine
8	chr11:120232000-120274800	Weak transcription	Ovary	ovary
9	chr11:120233000-120245800	Weak transcription	NHDF-Ad	bronchial
10	chr11:120234600-120250200	Weak transcription	Osteobl	bone
11	chr11:120235000-120247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:120235600-120252400	Weak transcription	Fetal Lung	lung
13	chr11:120239000-120248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:120239200-120248000	Weak transcription	Right Ventricle	heart
15	chr11:120239200-120252200	Weak transcription	Psoas Muscle	Psoas
16	chr11:120239200-120253800	Weak transcription	Right Atrium	heart
17	chr11:120239800-120250200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:120241000-120248200	Weak transcription	K562	blood
19	chr11:120241600-120245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:120241600-120245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:120241600-120245800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:120241800-120245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:120242200-120248000	Weak transcription	Left Ventricle	heart
24	chr11:120242400-120244800	Enhancers	Fetal Intestine Large	intestine
25	chr11:120242600-120245000	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:120242600-120245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:120242600-120248000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:120242800-120244800	Weak transcription	NHLF	lung
29	chr11:120243000-120244800	Weak transcription	A549	lung
30	chr11:120243000-120248800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:120243000-120249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:120243400-120246600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:120243400-120247600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:120243600-120246600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:120243600-120249000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:120243800-120249600	Weak transcription	Liver	Liver
37	chr11:120244000-120245200	Weak transcription	HepG2	liver
38	chr11:120244200-120245600	Weak transcription	Fetal Intestine Small	intestine

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