Variant report

Variant	rs991632
Chromosome Location	chr7:112038730-112038731
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	chr7:112032001..112033811-chr7:112035670..112039221,3	MCF-7	breast:
2	chr7:112029372..112031621-chr7:112036798..112039526,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1015417	0.99[ASN][1000 genomes]
rs12154681	0.86[CHB][hapmap]
rs1557698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17492150	0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs2396537	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2520468	0.99[ASN][1000 genomes]
rs2520469	0.99[ASN][1000 genomes]
rs2520472	0.99[ASN][1000 genomes]
rs2520478	0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2520479	0.98[ASN][1000 genomes]
rs2520480	1.00[ASN][1000 genomes]
rs2520481	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2520483	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2520484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2523036	0.99[ASN][1000 genomes]
rs2523043	0.97[ASN][1000 genomes]
rs2708591	0.88[ASN][1000 genomes]
rs2708593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2708599	1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[ASN][1000 genomes]
rs36113101	0.85[ASN][1000 genomes]
rs6977129	0.84[ASN][1000 genomes]
rs727807	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs728273	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9640740	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 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	chr7:112037400-112038800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr7:112037400-112039200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:112037400-112039400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:112037600-112039000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:112037600-112039200	Enhancers	Dnd41	blood
6	chr7:112037600-112039400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:112037600-112039400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:112037600-112039400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:112037800-112038800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:112037800-112039000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:112038000-112039000	Enhancers	Primary T cells from cord blood	blood
12	chr7:112038000-112039000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr7:112038000-112039000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:112038000-112039000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:112038000-112039200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:112038000-112039200	Enhancers	Fetal Thymus	thymus
17	chr7:112038000-112039400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:112038200-112038800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:112038200-112038800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:112038200-112038800	Enhancers	Esophagus	oesophagus
21	chr7:112038200-112039000	Enhancers	Thymus	Thymus
22	chr7:112038200-112039200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:112038200-112039200	Enhancers	Placenta	Placenta
24	chr7:112038400-112038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:112038400-112038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:112038400-112039000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:112038400-112039000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:112038600-112038800	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:112038600-112039000	Flanking Active TSS	K562	blood

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