Variant report

Variant	rs7012434
Chromosome Location	chr8:67465588-67465589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67463033..67465953-chr8:67475918..67478004,2	K562	blood:
2	chr8:67453132..67456327-chr8:67464410..67468570,4	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11995298	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12543076	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs12547831	1.00[JPT][hapmap]
rs16932954	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16932958	1.00[CEU][hapmap]
rs62512599	0.98[ASN][1000 genomes]
rs62512601	0.99[ASN][1000 genomes]
rs7008801	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7832611	1.00[CEU][hapmap];0.93[JPT][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67455000-67468000	Weak transcription	Left Ventricle	heart
2	chr8:67460600-67472000	Weak transcription	NHLF	lung
3	chr8:67461200-67466200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:67461200-67472000	Weak transcription	A549	lung
5	chr8:67461400-67471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:67461600-67466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:67461600-67471600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:67461800-67466200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:67461800-67466200	Weak transcription	HSMMtube	muscle
10	chr8:67461800-67466400	Weak transcription	HSMM	muscle
11	chr8:67461800-67467800	Weak transcription	NH-A	brain
12	chr8:67463600-67466400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:67463600-67488200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:67463800-67468000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:67464000-67466200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67464000-67493600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:67464600-67488200	Weak transcription	Dnd41	blood
18	chr8:67464800-67465600	Enhancers	Psoas Muscle	Psoas
19	chr8:67465000-67466000	Weak transcription	NHEK	skin
20	chr8:67465200-67465600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:67465200-67466600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:67465200-67478400	Weak transcription	Primary T cells fromperipheralblood	blood

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