Variant report

Variant	rs11572706
Chromosome Location	chr1:216825445-216825446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11117658	0.90[GIH][hapmap]
rs11580756	0.93[GIH][hapmap]
rs1339343	0.93[GIH][hapmap]
rs17627954	0.85[GIH][hapmap]
rs17679272	0.83[GIH][hapmap]
rs4259728	0.93[GIH][hapmap]

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	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216775200-216835400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:216787400-216853800	Weak transcription	Pancreas	Pancrea
3	chr1:216800000-216826200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:216800200-216826600	Weak transcription	Left Ventricle	heart
5	chr1:216814000-216856200	Weak transcription	Psoas Muscle	Psoas
6	chr1:216818600-216835000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:216820400-216855400	Weak transcription	Fetal Heart	heart
8	chr1:216824800-216825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:216825000-216825600	Enhancers	Placenta	Placenta
10	chr1:216825200-216826000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:216825400-216826200	Enhancers	HUES64 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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