Variant report

Variant	rs4561706
Chromosome Location	chr2:31316509-31316510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1000916	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490520	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11676343	0.86[AFR][1000 genomes]
rs11677760	0.90[AFR][1000 genomes]
rs13412639	1.00[JPT][hapmap]
rs17010725	1.00[JPT][hapmap]
rs2216831	0.91[CHD][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6760393	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760531	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72795209	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72795211	0.86[AFR][1000 genomes]
rs7340309	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7602985	1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:31310600-31320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:31310600-31346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:31313000-31321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:31313400-31317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:31314800-31317600	Weak transcription	NHEK	skin
9	chr2:31314800-31320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:31316000-31320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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