Variant report

Variant	rs257175
Chromosome Location	chr5:16628489-16628490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16625039..16627888-chr5:16628424..16629990,2	MCF-7	breast:
2	chr5:16588526..16589249-chr5:16628201..16629134,3	MCF-7	breast:
3	chr5:16464646..16468132-chr5:16626735..16630201,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs181937	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs185384	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187275	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256886	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs256893	0.88[CEU][hapmap]
rs35004	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs35005	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs410808	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs866884	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16623200-16630600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:16625200-16631000	Enhancers	Thymus	Thymus
3	chr5:16625400-16630400	Enhancers	Fetal Thymus	thymus
4	chr5:16625600-16629200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:16625600-16631200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:16625600-16631200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:16625600-16631600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:16625800-16629200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:16625800-16629400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:16626200-16628800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr5:16626200-16629800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:16626400-16628800	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:16626400-16629400	Weak transcription	Left Ventricle	heart
14	chr5:16626600-16628800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:16626600-16629000	Enhancers	Adipose Nuclei	Adipose
16	chr5:16626600-16630200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:16627000-16632200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:16627200-16628600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:16627200-16629400	Enhancers	Primary T cells from cord blood	blood
20	chr5:16627400-16629400	Weak transcription	Fetal Heart	heart
21	chr5:16627600-16628600	Weak transcription	Lung	lung
22	chr5:16627600-16628800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:16627600-16629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:16627600-16629800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:16627800-16629400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:16627800-16629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:16627800-16629600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:16627800-16629800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:16627800-16630400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:16628000-16628600	Weak transcription	Right Atrium	heart
31	chr5:16628200-16628600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:16628400-16628600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:16628400-16629400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:16628400-16630600	Enhancers	Primary B cells from cord blood	blood

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