Variant report

Variant	rs2708593
Chromosome Location	chr7:112036947-112036948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112036084..112038070-chr7:112090165..112092011,2	K562	blood:
2	chr7:112036570..112038655-chr7:112089607..112091665,2	K562	blood:
3	chr7:112031184..112032769-chr7:112035283..112037253,2	MCF-7	breast:
4	chr7:112032001..112033811-chr7:112035670..112039221,3	MCF-7	breast:
5	chr7:112029372..112031621-chr7:112036798..112039526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1015417	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435366	0.88[YRI][hapmap]
rs12154681	0.86[CHB][hapmap]
rs1557698	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17492150	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2396537	0.86[CEU][hapmap];0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs2520468	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2520469	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520472	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520478	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2520479	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520480	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520481	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520483	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2523036	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2523043	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708591	0.89[ASN][1000 genomes]
rs2708599	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36113101	0.84[ASN][1000 genomes]
rs6977129	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs727807	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs728273	0.91[CEU][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7802828	0.80[YRI][hapmap]
rs9640740	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs991632	0.99[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112032600-112037600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr7:112032600-112037800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:112032800-112037200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:112032800-112037400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:112032800-112037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:112032800-112037600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:112032800-112037600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:112032800-112037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:112032800-112037800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:112032800-112037800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:112032800-112038000	Weak transcription	Primary T cells from cord blood	blood
12	chr7:112032800-112038000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:112032800-112038000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:112032800-112038000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:112032800-112038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:112032800-112038000	Weak transcription	Fetal Thymus	thymus
17	chr7:112033600-112037600	Weak transcription	Dnd41	blood
18	chr7:112036200-112038200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:112036600-112037800	Enhancers	Fetal Brain Male	brain

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