Variant report

Variant	rs57418738
Chromosome Location	chr6:5758668-5758669
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	chr6:5747398..5750144-chr6:5756400..5758894,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11969052	0.92[EUR][1000 genomes]
rs12524563	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12528454	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141250	0.82[EUR][1000 genomes]
rs17141268	0.87[EUR][1000 genomes]
rs17141271	0.87[EUR][1000 genomes]
rs17141289	0.87[EUR][1000 genomes]
rs17145862	0.87[EUR][1000 genomes]
rs2093427	0.87[EUR][1000 genomes]
rs4291133	0.82[EUR][1000 genomes]
rs59058623	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61187836	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6597162	0.84[EUR][1000 genomes]
rs6910357	0.87[EUR][1000 genomes]
rs6914171	0.87[EUR][1000 genomes]
rs6941313	0.87[EUR][1000 genomes]
rs73720206	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9504502	0.80[EUR][1000 genomes]
rs9504506	1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:5753000-5786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:5753400-5761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:5753400-5764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:5754600-5761000	Weak transcription	Right Ventricle	heart
6	chr6:5754600-5762600	Weak transcription	Aorta	Aorta
7	chr6:5754600-5763200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:5754600-5764800	Weak transcription	Gastric	stomach
9	chr6:5754600-5771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:5754800-5767200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:5754800-5771000	Weak transcription	Pancreas	Pancrea
12	chr6:5755000-5775600	Weak transcription	Thymus	Thymus
13	chr6:5755200-5761400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:5755200-5761400	Weak transcription	Osteobl	bone
15	chr6:5756400-5763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:5756400-5771200	Weak transcription	Primary T cells from cord blood	blood
17	chr6:5756600-5760000	Weak transcription	Primary B cells from cord blood	blood
18	chr6:5756600-5760400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:5758000-5761200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:5758000-5764200	Weak transcription	Psoas Muscle	Psoas
21	chr6:5758400-5764600	Weak transcription	Lung	lung

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