Variant report

Variant	rs11686479
Chromosome Location	chr2:31309930-31309931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs17010640	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs17010645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][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];0.98[ASN][1000 genomes]
rs17010691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2113491	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]
rs2365194	1.00[AFR][1000 genomes];1.00[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[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:17 , 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	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:31304800-31310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31305200-31311200	Weak transcription	HMEC	breast
8	chr2:31305400-31311200	Weak transcription	NHEK	skin
9	chr2:31305400-31311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:31305400-31314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:31307600-31310400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:31309200-31310200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:31309200-31310600	Enhancers	Fetal Kidney	kidney
15	chr2:31309400-31310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:31309400-31311200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:31309800-31310200	Weak transcription	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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