Variant report

Variant	rs56693116
Chromosome Location	chr11:120361394-120361395
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	chr11:120107356..120109138-chr11:120361187..120363065,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10790381	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892565	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892569	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892575	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217843	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11217857	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11217866	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11217874	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217875	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217878	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217887	0.83[ASN][1000 genomes]
rs11823264	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11824032	0.83[EUR][1000 genomes]
rs12270397	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12794618	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12807097	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17123861	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276035	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4381380	0.85[ASN][1000 genomes]
rs4936518	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4938802	0.85[EUR][1000 genomes]
rs4938803	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4938806	0.87[ASN][1000 genomes]
rs4938807	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6589810	0.87[ASN][1000 genomes]
rs6589813	0.89[ASN][1000 genomes]
rs7101415	0.87[ASN][1000 genomes]
rs7115714	0.88[ASN][1000 genomes]
rs7129944	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7924772	0.84[ASN][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	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120314200-120362200	Strong transcription	Liver	Liver
2	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:120356000-120365000	Weak transcription	Fetal Heart	heart
5	chr11:120356200-120370800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:120356400-120363400	Weak transcription	NHEK	skin
7	chr11:120356400-120365200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:120356600-120364000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:120356600-120365600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:120356600-120365800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:120356600-120366400	Weak transcription	Fetal Kidney	kidney
12	chr11:120356600-120370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:120356800-120363800	Weak transcription	GM12878-XiMat	blood
14	chr11:120356800-120365400	Weak transcription	Stomach Mucosa	stomach
15	chr11:120357000-120361400	Weak transcription	HSMMtube	muscle
16	chr11:120357200-120363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:120357200-120363400	Weak transcription	Pancreas	Pancrea
18	chr11:120357200-120364200	Weak transcription	Brain Germinal Matrix	brain
19	chr11:120357200-120365200	Weak transcription	K562	blood
20	chr11:120357200-120365400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:120357200-120366200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:120357200-120368600	Weak transcription	Spleen	Spleen
23	chr11:120357200-120374000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:120357400-120363200	Weak transcription	Ovary	ovary
25	chr11:120357400-120365400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:120357400-120365600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:120357400-120367200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:120357400-120367600	Weak transcription	HUVEC	blood vessel
29	chr11:120357800-120368000	Weak transcription	NH-A	brain
30	chr11:120357800-120371400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:120358000-120370600	Weak transcription	Osteobl	bone
32	chr11:120358200-120361600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:120358200-120365400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:120358400-120365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:120358400-120367200	Weak transcription	Fetal Lung	lung
36	chr11:120358600-120361400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:120358600-120361400	Weak transcription	Aorta	Aorta
38	chr11:120358600-120362800	Weak transcription	Lung	lung
39	chr11:120358600-120363400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:120358600-120363800	Weak transcription	NHDF-Ad	bronchial
41	chr11:120358600-120364000	Weak transcription	Brain Anterior Caudate	brain
42	chr11:120358600-120365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:120358600-120365400	Weak transcription	NHLF	lung
44	chr11:120358600-120367000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:120358600-120367400	Weak transcription	Fetal Stomach	stomach
46	chr11:120358600-120367600	Weak transcription	Gastric	stomach
47	chr11:120358600-120369400	Weak transcription	Right Ventricle	heart
48	chr11:120358600-120370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:120358600-120370800	Weak transcription	Left Ventricle	heart
50	chr11:120358600-120374200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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