Variant report

Variant	rs57566649
Chromosome Location	chr2:173511823-173511824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173501713..173506948-chr2:173507663..173511952,6	K562	blood:

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

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

rs_ID	r²[population]
rs12615889	0.80[ASN][1000 genomes]
rs12622335	0.81[ASN][1000 genomes]
rs16860762	0.89[AFR][1000 genomes]
rs16860768	0.99[AFR][1000 genomes]
rs16860778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16860794	0.80[ASN][1000 genomes]
rs16860795	0.80[ASN][1000 genomes]
rs16860798	0.80[ASN][1000 genomes]
rs2034854	0.96[ASN][1000 genomes]
rs2054162	0.83[ASN][1000 genomes]
rs2084731	0.80[ASN][1000 genomes]
rs2084732	0.80[ASN][1000 genomes]
rs2122832	0.96[ASN][1000 genomes]
rs2198799	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4313941	0.81[ASN][1000 genomes]
rs4972514	0.80[ASN][1000 genomes]
rs4972515	0.80[ASN][1000 genomes]
rs4972845	0.95[ASN][1000 genomes]
rs4972847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972849	0.80[ASN][1000 genomes]
rs56750684	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58308687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59074037	0.84[AFR][1000 genomes]
rs59547791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59839960	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6705827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73040802	0.89[AFR][1000 genomes]
rs73042913	0.99[AFR][1000 genomes]
rs73042916	0.99[AFR][1000 genomes]
rs73042937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73042954	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73977622	0.94[AFR][1000 genomes]
rs7595971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
2	chr2:173505000-173512000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:173505400-173512000	Weak transcription	HSMM	muscle
4	chr2:173508600-173512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:173508800-173512000	Weak transcription	NHEK	skin
6	chr2:173509200-173519400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:173511200-173512800	Enhancers	NHDF-Ad	bronchial
8	chr2:173511200-173513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:173511600-173512800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:173511800-173512000	Bivalent Enhancer	Small Intestine	intestine
11	chr2:173511800-173512200	Enhancers	Osteobl	bone
12	chr2:173511800-173512600	Enhancers	HMEC	breast
13	chr2:173511800-173512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:173511800-173512800	Enhancers	NH-A	brain
15	chr2:173511800-173513000	Enhancers	HUVEC	blood vessel
16	chr2:173511800-173513000	Enhancers	NHLF	lung
17	chr2:173511800-173513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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