Variant report

Variant	rs12221935
Chromosome Location	chr11:47688949-47688950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10838721	1.00[AFR][1000 genomes]
rs11039256	1.00[AFR][1000 genomes]
rs11039306	1.00[AFR][1000 genomes]
rs11039332	1.00[LWK][hapmap]
rs11039339	1.00[AFR][1000 genomes]
rs11039413	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12225433	1.00[AFR][1000 genomes]
rs2046378	1.00[AFR][1000 genomes]
rs2904128	1.00[AFR][1000 genomes]
rs60133324	1.00[AFR][1000 genomes]
rs7109918	1.00[AFR][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	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47676800-47703400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:47687000-47692600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:47687200-47693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:47688200-47690400	Enhancers	Fetal Lung	lung
5	chr11:47688400-47689000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:47688400-47689200	Enhancers	Fetal Stomach	stomach
7	chr11:47688600-47689000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:47688600-47689000	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:47688600-47689000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:47688600-47689000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:47688600-47689200	Enhancers	HSMMtube	muscle
12	chr11:47688600-47689400	Enhancers	Ovary	ovary
13	chr11:47688600-47691000	Enhancers	HepG2	liver
14	chr11:47688800-47689400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:47688800-47689400	Strong transcription	Liver	Liver

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Input of quick search could be:

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

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