Variant report

Variant	rs2093427
Chromosome Location	chr6:5770436-5770437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5765933..5768919-chr6:5770030..5772531,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11969052	1.00[CEU][hapmap]
rs12524563	0.82[EUR][1000 genomes]
rs12528454	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17141250	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17141268	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141271	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141289	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17145862	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2326674	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs4291133	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4959356	0.87[EUR][1000 genomes]
rs57418738	0.87[EUR][1000 genomes]
rs59058623	0.91[EUR][1000 genomes]
rs61187836	0.87[EUR][1000 genomes]
rs6910357	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6914171	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941313	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73720206	0.87[EUR][1000 genomes]
rs9504502	1.00[CEU][hapmap]
rs9504506	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv969347	chr6:5757580-5774327	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:5754600-5771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:5754800-5771000	Weak transcription	Pancreas	Pancrea
4	chr6:5755000-5775600	Weak transcription	Thymus	Thymus
5	chr6:5756400-5771200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:5760400-5771400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:5764600-5774200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:5764800-5771600	Weak transcription	Ovary	ovary
9	chr6:5764800-5776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:5765000-5776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:5765200-5777000	Weak transcription	NHLF	lung
12	chr6:5765200-5778800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:5765400-5776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:5765400-5782200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:5765600-5773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:5765600-5774000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:5765600-5775800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:5765600-5782800	Weak transcription	Gastric	stomach
19	chr6:5765600-5783000	Weak transcription	Esophagus	oesophagus
20	chr6:5765800-5775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:5766000-5771000	Weak transcription	Spleen	Spleen
22	chr6:5766000-5771400	Weak transcription	Left Ventricle	heart
23	chr6:5766000-5771600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:5766000-5772000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:5766000-5772800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:5766000-5776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:5766000-5777200	Weak transcription	Lung	lung
28	chr6:5766000-5783400	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:5766000-5783400	Weak transcription	Right Atrium	heart
30	chr6:5766200-5772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:5766200-5772800	Weak transcription	Primary B cells from cord blood	blood
32	chr6:5766600-5775600	Weak transcription	Fetal Thymus	thymus
33	chr6:5767000-5776000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:5767000-5782200	Weak transcription	Fetal Heart	heart
35	chr6:5767800-5781600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:5768200-5782400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:5768400-5776200	Weak transcription	Liver	Liver
38	chr6:5769200-5771000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:5769400-5771000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:5769400-5781400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:5769600-5771400	Enhancers	Fetal Muscle Leg	muscle
42	chr6:5769600-5771800	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:5769800-5771400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:5770000-5778000	Weak transcription	GM12878-XiMat	blood
45	chr6:5770000-5783000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:5770200-5773000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:5770200-5776200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:5770200-5782800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:5770200-5783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:5770400-5771000	Weak transcription	Fetal Stomach	stomach

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