Variant report

Variant	rs2294790
Chromosome Location	chr6:53786061-53786062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1076701	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1076702	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12526194	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2073020	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2076495	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2294789	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294791	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4455653	0.86[ASN][1000 genomes]
rs6903399	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9349685	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9357776	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9357778	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9370233	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9370241	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9370244	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9370246	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9382238	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9382241	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9382243	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9382244	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9382246	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9382248	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9382252	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9382253	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382254	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382256	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9382257	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9395878	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9395881	0.82[AMR][1000 genomes];0.86[EUR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53759200-53787600	Weak transcription	Spleen	Spleen
2	chr6:53759200-53794400	Weak transcription	Right Ventricle	heart
3	chr6:53759400-53786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:53759600-53789800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:53760400-53789400	Weak transcription	Stomach Mucosa	stomach
6	chr6:53760400-53791200	Weak transcription	Hela-S3	cervix
7	chr6:53760600-53793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:53761400-53787400	Weak transcription	HMEC	breast
9	chr6:53761400-53791200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:53761600-53790800	Weak transcription	Fetal Heart	heart
11	chr6:53761800-53786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:53762000-53791200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:53762000-53791600	Weak transcription	Fetal Lung	lung
14	chr6:53762200-53786800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:53769200-53790400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:53770000-53795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:53770600-53787400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:53772000-53787600	Weak transcription	Pancreas	Pancrea
20	chr6:53772000-53803000	Weak transcription	Lung	lung
21	chr6:53776000-53786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:53776000-53790600	Weak transcription	Brain Germinal Matrix	brain
23	chr6:53776200-53786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:53776400-53786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:53776600-53789200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:53776800-53791000	Weak transcription	HUVEC	blood vessel
27	chr6:53777600-53790600	Strong transcription	Fetal Thymus	thymus
28	chr6:53778000-53787800	Strong transcription	Dnd41	blood
29	chr6:53778000-53791800	Weak transcription	Small Intestine	intestine
30	chr6:53779200-53787600	Weak transcription	Aorta	Aorta
31	chr6:53779400-53787600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:53779600-53787400	Weak transcription	Esophagus	oesophagus
33	chr6:53779600-53791400	Weak transcription	Placenta	Placenta
34	chr6:53780200-53790400	Weak transcription	Gastric	stomach
35	chr6:53781000-53787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:53781000-53789200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:53781000-53791200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:53782200-53787800	Weak transcription	Brain Angular Gyrus	brain
39	chr6:53782400-53789400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:53782400-53790400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:53782600-53786200	Weak transcription	Fetal Kidney	kidney
42	chr6:53782600-53787200	Weak transcription	HSMM	muscle
43	chr6:53783000-53791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:53783200-53789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:53783400-53787600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:53783400-53789800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:53783600-53790800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:53783800-53786200	Strong transcription	Fetal Intestine Small	intestine
49	chr6:53783800-53786200	Strong transcription	NHEK	skin
50	chr6:53783800-53786400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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