Variant report

Variant	rs4952048
Chromosome Location	chr2:31301225-31301226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10490520	1.00[CEU][hapmap]
rs11676343	0.81[EUR][1000 genomes]
rs11677760	0.81[EUR][1000 genomes]
rs11686479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17010640	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs17010645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17010691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2113491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2365194	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4362605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951966	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs72795211	0.81[EUR][1000 genomes]
rs72795215	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72795219	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv961714	chr2:31298724-31305343	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 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	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:31297200-31301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:31299000-31301600	Weak transcription	NHDF-Ad	bronchial
12	chr2:31299200-31301400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:31299200-31301600	Weak transcription	Fetal Brain Female	brain
14	chr2:31299400-31301600	Weak transcription	NHEK	skin
15	chr2:31299400-31301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:31299400-31304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:31299800-31301600	Weak transcription	HMEC	breast
18	chr2:31300600-31302600	Enhancers	Brain Germinal Matrix	brain
19	chr2:31300600-31302800	Weak transcription	Esophagus	oesophagus
20	chr2:31300800-31304000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:31301000-31301600	Enhancers	Fetal Brain Male	brain
22	chr2:31301000-31303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:31301000-31304600	Weak transcription	Fetal Kidney	kidney
24	chr2:31301200-31304800	Weak transcription	Fetal Lung	lung
25	chr2:31301200-31306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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