Variant report

Variant	rs17702812
Chromosome Location	chr4:53935705-53935706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12186215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2053650	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4864446	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4864709	1.00[YRI][hapmap]
rs62338965	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62338967	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338969	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338970	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62338994	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62339002	0.88[EUR][1000 genomes]
rs62339004	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2762432	chr4:53929894-53942489	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53922200-53945600	Weak transcription	Ovary	ovary
2	chr4:53922200-53954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:53933200-53945200	Weak transcription	Pancreas	Pancrea
4	chr4:53933400-53959200	Weak transcription	Gastric	stomach
5	chr4:53933800-53948800	Weak transcription	Aorta	Aorta
6	chr4:53934000-53941800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:53934200-53936800	Weak transcription	Primary B cells from cord blood	blood
8	chr4:53934200-53964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:53934400-53938800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:53934400-53944000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:53934800-53942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:53935000-53935800	Enhancers	HepG2	liver
13	chr4:53935200-53935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:53935200-53936000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:53935200-53936800	Weak transcription	Fetal Kidney	kidney
16	chr4:53935600-53935800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:53935600-53938200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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