Variant report

Variant	rs10518317
Chromosome Location	chr4:119862566-119862567
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	chr4:119861194..119864004-chr4:119866188..119868711,2	K562	blood:
2	chr4:119862486..119864004-chr4:119865931..119867688,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10017229	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13151719	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17050228	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17050240	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17261234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17327171	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2389694	0.90[EUR][1000 genomes]
rs4261974	0.91[EUR][1000 genomes]
rs4299565	0.91[EUR][1000 genomes]
rs67109496	0.81[AMR][1000 genomes];0.91[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119858000-119862600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:119858800-119871600	Weak transcription	Psoas Muscle	Psoas
3	chr4:119860200-119864000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:119860400-119863000	Weak transcription	HSMMtube	muscle
5	chr4:119860600-119862800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:119860800-119862800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:119860800-119863600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:119860800-119864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:119860800-119868200	Weak transcription	Fetal Heart	heart
10	chr4:119861400-119863600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr4:119861600-119863000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:119861600-119865200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:119861800-119863600	Enhancers	Right Ventricle	heart
14	chr4:119861800-119864000	Enhancers	Left Ventricle	heart
15	chr4:119861800-119864000	Enhancers	Ovary	ovary
16	chr4:119861800-119864000	Enhancers	Right Atrium	heart
17	chr4:119862000-119862800	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:119862000-119863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:119862000-119863000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:119862000-119863200	Enhancers	Brain Anterior Caudate	brain
21	chr4:119862200-119862800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:119862200-119863000	Weak transcription	Aorta	Aorta
23	chr4:119862200-119863200	Enhancers	Fetal Stomach	stomach
24	chr4:119862200-119863400	Enhancers	Liver	Liver
25	chr4:119862200-119863600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:119862200-119863800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:119862200-119864000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:119862200-119864000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:119862200-119864000	Enhancers	NHDF-Ad	bronchial
30	chr4:119862400-119862600	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr4:119862400-119862800	Weak transcription	Hela-S3	cervix
32	chr4:119862400-119862800	Enhancers	Osteobl	bone
33	chr4:119862400-119863000	Enhancers	Stomach Mucosa	stomach
34	chr4:119862400-119863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:119862400-119863600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:119862400-119864000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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