Variant report

Variant	rs592943
Chromosome Location	chr11:94193329-94193330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10741488	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10831222	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10831227	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020774	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11523894	0.83[EUR][1000 genomes]
rs1257783	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155209	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758787	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824878	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4459257	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs485146	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs489333	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs491404	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492073	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs514060	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs516037	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs534402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538800	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs541090	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs546439	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs554715	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs556477	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560190	0.83[AMR][1000 genomes]
rs563882	0.83[AMR][1000 genomes]
rs572372	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs581449	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs583534	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs584531	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs601391	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604845	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618690	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs646130	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs657830	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs661957	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
6	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
12	chr11:94166600-94216400	Weak transcription	Gastric	stomach
13	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
14	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
16	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:94170000-94194200	Weak transcription	Spleen	Spleen
20	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
22	chr11:94179200-94199000	Weak transcription	Fetal Brain Female	brain
23	chr11:94179200-94200000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:94179400-94206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:94180400-94199000	Weak transcription	Brain Germinal Matrix	brain
27	chr11:94180600-94202800	Weak transcription	Brain Anterior Caudate	brain
28	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:94180800-94194200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:94180800-94194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:94180800-94198800	Weak transcription	Thymus	Thymus
32	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:94180800-94215800	Weak transcription	Lung	lung
34	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
35	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
36	chr11:94183000-94205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:94183200-94193400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:94183200-94193600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:94183200-94222200	Weak transcription	HMEC	breast
40	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:94183600-94225800	Weak transcription	NHLF	lung
42	chr11:94183800-94196000	Weak transcription	Osteobl	bone
43	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
44	chr11:94185600-94194600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:94185800-94195400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:94186000-94194600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:94186200-94194400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:94186400-94195200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:94186600-94199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:94187400-94194800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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