Variant report

Variant	rs7961041
Chromosome Location	chr12:104453196-104453197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000139372	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11111878	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17035146	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1843371	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1905849	0.91[AFR][1000 genomes]
rs1920410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1920411	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1920412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220210	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423256	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr12:104444400-104457400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:104449600-104457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104450000-104456800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104450200-104457400	Weak transcription	Pancreas	Pancrea
5	chr12:104450400-104456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:104450400-104457200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:104450400-104457400	Weak transcription	HSMMtube	muscle
8	chr12:104450800-104457400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:104451600-104453200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:104451600-104453400	Enhancers	HMEC	breast
11	chr12:104451600-104453600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104451800-104453200	Enhancers	NHEK	skin
13	chr12:104451800-104454200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:104452000-104453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104452600-104453200	Enhancers	Placenta	Placenta

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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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