Variant report

Variant	rs1588521
Chromosome Location	chr4:121802357-121802358
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121801967..121804397-chr4:121806256..121807928,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11723050	0.86[CHB][hapmap]
rs13149200	0.87[CHB][hapmap]
rs1376102	0.87[CHB][hapmap]
rs1470696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1901135	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2053875	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs2892917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3099888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106314	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3115313	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343194	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343201	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs3804178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7675777	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]

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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121791400-121803200	Weak transcription	Fetal Stomach	stomach
2	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:121796600-121803200	Weak transcription	Pancreas	Pancrea
4	chr4:121796800-121803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
6	chr4:121797000-121823800	Weak transcription	Osteobl	bone
7	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:121798800-121810600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:121798800-121814000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:121799000-121806800	Weak transcription	Ovary	ovary
11	chr4:121799200-121811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:121800200-121803200	Weak transcription	Aorta	Aorta
13	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:121802000-121802600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:121802000-121802800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:121802200-121802600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr4:121802200-121802800	Weak transcription	NHDF-Ad	bronchial
18	chr4:121802200-121803400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr4:121802200-121806400	Weak transcription	Fetal Lung	lung
20	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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