Variant report

Variant	rs59634313
Chromosome Location	chr8:49060288-49060289
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	chr8:49059447..49061809-chr8:49066449..49068254,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11991972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114205	1.00[AMR][1000 genomes]
rs12114564	1.00[AMR][1000 genomes]
rs4304348	1.00[AMR][1000 genomes]
rs4546687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4546688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4609219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4637865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55708513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55770276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55956950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57688729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57834756	1.00[AMR][1000 genomes]
rs58045776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58431112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58555026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59517761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60463191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61602855	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678259	1.00[AMR][1000 genomes]
rs7465660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr8:49051800-49065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:49056200-49066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49058000-49064800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:49058200-49060800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49058600-49060600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:49058600-49060800	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:49058800-49060600	Enhancers	Fetal Stomach	stomach
8	chr8:49059200-49060400	Enhancers	Esophagus	oesophagus
9	chr8:49059200-49060400	Enhancers	HMEC	breast
10	chr8:49059200-49060600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:49059200-49060600	Enhancers	Liver	Liver
12	chr8:49059200-49060600	Enhancers	NHDF-Ad	bronchial
13	chr8:49059200-49060800	Enhancers	HepG2	liver
14	chr8:49059200-49061000	Enhancers	Adipose Nuclei	Adipose
15	chr8:49059600-49060400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:49059800-49060600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:49060000-49060400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr8:49060000-49060400	Flanking Active TSS	NHEK	skin
19	chr8:49060200-49060400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:49060200-49060400	Enhancers	Hela-S3	cervix
21	chr8:49060200-49060600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:49060200-49061400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:49060200-49061600	Weak transcription	Osteobl	bone
24	chr8:49060200-49061800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:49060200-49062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:49060200-49064200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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