Variant report

Variant	rs2113491
Chromosome Location	chr2:31296390-31296391
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	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10490520	1.00[CEU][hapmap]
rs11686479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17010640	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs17010645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17010685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17010691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2365194	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4362605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4951966	1.00[CHB][hapmap]
rs4952048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[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	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31287200-31297000	Weak transcription	Aorta	Aorta
5	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
6	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
7	chr2:31291000-31298400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:31293000-31298000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:31293800-31298200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:31294200-31298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:31294400-31298400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:31294400-31298400	Weak transcription	HMEC	breast
14	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:31294600-31296600	Weak transcription	Esophagus	oesophagus
16	chr2:31294600-31297800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:31294600-31298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:31294600-31298400	Weak transcription	NHEK	skin
19	chr2:31294600-31298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:31294800-31297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:31294800-31297800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:31295200-31296800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood

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