Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31326028..31328908-chr2:31329541..31331978,2	K562	blood:

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

rs_ID	r²[population]
rs10193546	0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs13386542	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs13404171	0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs17010651	0.82[JPT][hapmap]
rs17010732	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs6705710	0.85[CHD][hapmap]
rs6714508	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6718847	0.82[JPT][hapmap]
rs9973423	0.82[CHB][hapmap];0.82[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:31310600-31346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:31320600-31337800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:31321400-31332000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:31328400-31335200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:31329000-31336400	Weak transcription	Spleen	Spleen
7	chr2:31329200-31348200	Weak transcription	A549	lung
8	chr2:31330200-31333400	Enhancers	Fetal Brain Male	brain
9	chr2:31330400-31332400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31330400-31332600	Enhancers	HMEC	breast
11	chr2:31330400-31332600	Enhancers	NHEK	skin
12	chr2:31330400-31332800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:31330400-31333200	Enhancers	Fetal Brain Female	brain
14	chr2:31330800-31332600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:31330800-31334600	Enhancers	Fetal Muscle Leg	muscle
16	chr2:31331000-31332000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:31331000-31332000	Enhancers	Fetal Lung	lung
18	chr2:31331200-31331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:31331200-31336200	Weak transcription	Lung	lung
20	chr2:31331400-31331800	Enhancers	HSMM	muscle

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