Variant report

Variant	rs17083483
Chromosome Location	chr5:93580830-93580831
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	chr5:93574870..93576425-chr5:93578922..93580893,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10463161	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739227	0.88[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs12660022	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1460182	0.88[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs17082131	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs17083516	0.92[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs1841298	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841300	0.82[ASN][1000 genomes]
rs1841301	0.82[ASN][1000 genomes]
rs2010909	0.92[CHB][hapmap]
rs2015009	0.88[CEU][hapmap]
rs2125887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2346067	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859083	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs6890849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713137	1.00[YRI][hapmap]
rs9763486	0.82[ASN][1000 genomes]
rs9764893	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv530552	chr5:93416111-93588509	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1024014	chr5:93460441-93655609	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv830406	chr5:93514329-93683512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93568000-93617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:93572400-93585400	Weak transcription	Psoas Muscle	Psoas
3	chr5:93572800-93586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:93573600-93581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:93578000-93584000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:93578000-93586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:93578000-93611400	Weak transcription	Hela-S3	cervix
8	chr5:93578200-93581800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:93578200-93582200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:93578400-93584200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:93578600-93584200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:93579000-93581600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:93579000-93585200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:93579200-93584000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:93579600-93581200	Weak transcription	Thymus	Thymus
16	chr5:93579600-93581400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:93579600-93617200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:93580000-93581200	Weak transcription	Osteobl	bone
19	chr5:93580000-93581400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:93580200-93581000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:93580200-93581200	Enhancers	Stomach Mucosa	stomach
22	chr5:93580200-93583200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:93580400-93581400	Weak transcription	NHDF-Ad	bronchial
24	chr5:93580400-93583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:93580800-93581200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:93580800-93581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:93580800-93582200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:93580800-93583000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:93580800-93583400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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