Variant report

Variant	rs10461373
Chromosome Location	chr5:59630405-59630406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59624456..59627842-chr5:59630040..59632479,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10461452	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs10461453	0.94[EUR][1000 genomes]
rs10514890	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10514891	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs10514892	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10514895	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12653662	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12656804	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12656836	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12656871	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12659623	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13158470	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13158573	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs13159724	0.88[CEU][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13178509	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13185075	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[EUR][1000 genomes]
rs16877859	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap]
rs16877926	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16877953	0.89[CEU][hapmap]
rs16877954	0.89[CEU][hapmap]
rs16877976	0.89[CEU][hapmap]
rs2961774	0.87[CEU][hapmap]
rs34114616	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34757284	0.94[EUR][1000 genomes]
rs34762984	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35022567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35250060	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35813355	0.94[EUR][1000 genomes]
rs35955333	0.92[EUR][1000 genomes]
rs4274945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4276368	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4515249	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699954	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4700373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6880937	0.97[EUR][1000 genomes]
rs71628002	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71630003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71630005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7711621	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes]
rs7711707	0.94[EUR][1000 genomes]
rs7718384	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7731452	0.94[EUR][1000 genomes]
rs7735398	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59620400-59631000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:59625200-59646800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:59626600-59635800	Weak transcription	Fetal Stomach	stomach
4	chr5:59628000-59631000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:59628000-59631000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:59628000-59631000	Enhancers	HMEC	breast
7	chr5:59628000-59631000	Enhancers	NHDF-Ad	bronchial
8	chr5:59628200-59630600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:59628200-59630600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:59628200-59630600	Enhancers	NHEK	skin
11	chr5:59628200-59631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:59628600-59630800	Enhancers	Hela-S3	cervix
13	chr5:59628600-59630800	Enhancers	Osteobl	bone
14	chr5:59628600-59631000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:59628600-59631000	Enhancers	NH-A	brain
16	chr5:59628800-59630600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:59628800-59631000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:59629400-59631200	Enhancers	Aorta	Aorta
19	chr5:59629800-59631000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:59630000-59630600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:59630000-59632400	Enhancers	Colon Smooth Muscle	Colon
22	chr5:59630200-59632000	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:59630400-59630600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:59630400-59630800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:59630400-59632000	Weak transcription	Fetal Brain Male	brain
26	chr5:59630400-59633000	Enhancers	Stomach Smooth Muscle	stomach

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