Variant report

Variant	rs6588617
Chromosome Location	chr1:56784083-56784084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56777835..56779614-chr1:56782621..56785140,2	K562	blood:

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

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

rs_ID	r²[population]
rs12741124	0.83[EUR][1000 genomes]
rs2793659	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994548	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2994549	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2994552	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2994554	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2994555	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994556	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994557	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994558	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994565	0.85[EUR][1000 genomes]
rs3005883	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005885	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005886	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005888	0.82[AMR][1000 genomes]
rs3005889	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3005892	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005893	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005894	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3005895	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3005897	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3005898	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3005899	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3005901	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3005909	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3005912	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3005913	0.85[EUR][1000 genomes]
rs6670302	0.81[EUR][1000 genomes]
rs72916227	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56768200-56791000	Weak transcription	Aorta	Aorta
4	chr1:56769600-56788000	Weak transcription	Right Atrium	heart
5	chr1:56770000-56791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:56770400-56792200	Weak transcription	Right Ventricle	heart
7	chr1:56770600-56786600	Weak transcription	Left Ventricle	heart
8	chr1:56776800-56784200	Weak transcription	NHDF-Ad	bronchial
9	chr1:56780200-56785600	Weak transcription	Fetal Lung	lung
10	chr1:56780200-56786200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:56780200-56786600	Weak transcription	Psoas Muscle	Psoas
12	chr1:56780400-56793600	Weak transcription	Liver	Liver
13	chr1:56781800-56791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56782000-56797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:56782600-56785600	Weak transcription	Fetal Heart	heart
16	chr1:56782600-56786200	Weak transcription	Fetal Stomach	stomach
17	chr1:56783400-56785000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:56783600-56784200	Enhancers	Ovary	ovary
19	chr1:56784000-56784200	Enhancers	Lung	lung

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