Variant report

Variant	rs17082074
Chromosome Location	chr4:53689848-53689849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53582665..53585471-chr4:53689497..53692252,2	K562	blood:
2	chr4:53689461..53691750-chr4:53727017..53729673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128045	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10517269	0.80[EUR][1000 genomes]
rs17082087	0.84[EUR][1000 genomes]
rs17082091	0.84[EUR][1000 genomes]
rs17630944	0.86[EUR][1000 genomes]
rs17698672	0.91[EUR][1000 genomes]
rs3811781	0.84[ASN][1000 genomes]
rs41279517	0.84[ASN][1000 genomes]
rs58461944	0.84[EUR][1000 genomes]
rs58577680	0.82[ASN][1000 genomes]
rs59042894	0.84[EUR][1000 genomes]
rs6554054	0.80[EUR][1000 genomes]
rs6554057	0.84[ASN][1000 genomes]
rs6817433	0.80[ASN][1000 genomes]
rs6818178	0.80[ASN][1000 genomes]
rs6848200	0.84[ASN][1000 genomes]
rs73814868	0.80[EUR][1000 genomes]
rs73814875	0.83[EUR][1000 genomes]
rs73814883	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73814886	0.82[ASN][1000 genomes]
rs7655781	0.80[ASN][1000 genomes]
rs7670068	0.82[ASN][1000 genomes]
rs7685816	0.82[ASN][1000 genomes]
rs881744	0.80[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	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53688600-53692400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:53688600-53692400	Enhancers	NHDF-Ad	bronchial
3	chr4:53688600-53692600	Enhancers	HMEC	breast
4	chr4:53688800-53690200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:53688800-53690400	Enhancers	Hela-S3	cervix
6	chr4:53688800-53692200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:53688800-53692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:53688800-53692400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:53688800-53692600	Enhancers	Ovary	ovary
10	chr4:53689000-53690200	Enhancers	HSMM	muscle
11	chr4:53689000-53690400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:53689000-53690400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:53689000-53690600	Weak transcription	Pancreas	Pancrea
14	chr4:53689000-53692000	Enhancers	Fetal Lung	lung
15	chr4:53689000-53692600	Enhancers	Placenta	Placenta
16	chr4:53689000-53693000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:53689200-53690000	Weak transcription	Gastric	stomach
18	chr4:53689200-53690000	Enhancers	Stomach Mucosa	stomach
19	chr4:53689200-53690400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:53689200-53690600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:53689200-53691000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:53689200-53692200	Enhancers	NH-A	brain
23	chr4:53689200-53692200	Enhancers	NHLF	lung
24	chr4:53689200-53692600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:53689400-53690400	Weak transcription	Right Atrium	heart
26	chr4:53689400-53690600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:53689400-53691000	Weak transcription	HSMMtube	muscle
28	chr4:53689400-53691800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:53689400-53692200	Enhancers	Fetal Stomach	stomach
30	chr4:53689400-53693000	Enhancers	Fetal Heart	heart
31	chr4:53689600-53690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:53689600-53690000	Enhancers	HepG2	liver
33	chr4:53689600-53690800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:53689600-53692200	Enhancers	Right Ventricle	heart
35	chr4:53689800-53690200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:53689800-53690600	Enhancers	NHEK	skin

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