Variant report

Variant	rs7791411
Chromosome Location	chr7:80632272-80632273
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10245948	0.88[YRI][hapmap]
rs10255328	0.87[YRI][hapmap]
rs4728301	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731988	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467509	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66909717	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67058745	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6979334	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73380614	0.85[AFR][1000 genomes]
rs7784110	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs7795189	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs7801859	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv888549	chr7:80553950-80652059	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888550	chr7:80584388-80644661	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv5812	chr7:80601278-80645927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv521001	chr7:80618038-80644661	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv888551	chr7:80620397-80723062	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80625400-80638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80629000-80632800	Weak transcription	Brain Germinal Matrix	brain
3	chr7:80631400-80632600	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:80631800-80632600	Weak transcription	Fetal Brain Male	brain
5	chr7:80631800-80633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:80632000-80632400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:80632000-80633000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:80632000-80633000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:80632000-80633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:80632000-80633200	Weak transcription	Adipose Nuclei	Adipose
11	chr7:80632000-80633200	Weak transcription	HSMM	muscle
12	chr7:80632000-80633200	Weak transcription	NHDF-Ad	bronchial
13	chr7:80632200-80632600	Active TSS	Fetal Brain Female	brain
14	chr7:80632200-80632600	Weak transcription	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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