Variant report

Variant	rs17082147
Chromosome Location	chr4:53753417-53753418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53750403..53753218-chr4:53753231..53755979,3	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10001855	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10008073	0.85[CEU][hapmap];0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs10014464	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1043975	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1047959	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10866413	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11930907	0.96[ASN][1000 genomes]
rs11934293	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940297	0.84[ASN][1000 genomes]
rs11941562	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1483685	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1483686	0.81[JPT][hapmap]
rs1483687	0.81[ASN][1000 genomes]
rs17082081	0.84[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17082143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17643154	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs1963003	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003198	0.96[ASN][1000 genomes]
rs2017237	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2046364	0.95[ASN][1000 genomes]
rs2062253	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2200226	0.95[ASN][1000 genomes]
rs2279334	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306601	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2411281	0.95[ASN][1000 genomes]
rs28419463	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28526700	0.81[ASN][1000 genomes]
rs28704139	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28811693	0.81[ASN][1000 genomes]
rs2898681	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs301118	0.85[EUR][1000 genomes]
rs301119	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs301121	0.85[EUR][1000 genomes]
rs301123	0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes]
rs301135	0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301136	0.93[EUR][1000 genomes]
rs4864673	0.81[ASN][1000 genomes]
rs4864679	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864681	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4864682	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4864683	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4864688	0.95[ASN][1000 genomes]
rs4864690	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4864691	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs59649036	0.95[ASN][1000 genomes]
rs61268502	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62336785	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62336788	0.83[EUR][1000 genomes]
rs62336791	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62336792	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62336794	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62336795	0.94[ASN][1000 genomes]
rs62336823	0.92[ASN][1000 genomes]
rs6833096	0.94[ASN][1000 genomes]
rs6839084	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6852148	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73143042	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs900607	0.98[ASN][1000 genomes]
rs922932	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922933	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9646	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9993034	0.84[EUR][1000 genomes];0.90[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	nsv1004086	chr4:53698581-53773183	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53729200-53807800	Weak transcription	Esophagus	oesophagus
2	chr4:53729400-53753800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:53732400-53755000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:53733000-53767800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:53733200-53759000	Weak transcription	Osteobl	bone
6	chr4:53734200-53760800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:53735000-53770200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:53735200-53755200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:53735200-53778000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:53735800-53772600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:53736200-53758800	Weak transcription	NHLF	lung
13	chr4:53736600-53759600	Weak transcription	Ovary	ovary
14	chr4:53736600-53785600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:53737200-53779200	Weak transcription	Gastric	stomach
16	chr4:53737600-53756000	Weak transcription	NHDF-Ad	bronchial
17	chr4:53741000-53757400	Weak transcription	Pancreas	Pancrea
18	chr4:53741000-53757800	Weak transcription	Fetal Lung	lung
19	chr4:53741800-53757800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:53742400-53754800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:53743400-53771000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:53743600-53758200	Weak transcription	Psoas Muscle	Psoas
23	chr4:53743600-53770200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:53744000-53758000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:53747800-53754000	Strong transcription	Primary T cells from cord blood	blood
26	chr4:53750000-53756800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:53750200-53770000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:53750400-53769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:53750600-53757000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:53750600-53769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:53750800-53757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:53751000-53753800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:53751400-53755800	Weak transcription	HMEC	breast
34	chr4:53751600-53756000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:53751600-53756800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:53751800-53760400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:53752000-53754000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:53752000-53755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:53752800-53754600	Weak transcription	Primary B cells from cord blood	blood
40	chr4:53752800-53756000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:53752800-53767000	Weak transcription	Thymus	Thymus
42	chr4:53753000-53757000	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:53753000-53758200	Weak transcription	Fetal Stomach	stomach
44	chr4:53753200-53760600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:53753400-53753800	ZNF genes & repeats	Liver	Liver
46	chr4:53753400-53755600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:53753400-53756000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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