Variant report

Variant	rs8080963
Chromosome Location	chr17:37383069-37383070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12950162	0.94[EUR][1000 genomes]
rs16968682	0.91[EUR][1000 genomes]
rs34739816	0.84[EUR][1000 genomes]
rs35290672	0.83[EUR][1000 genomes]
rs35421081	0.89[EUR][1000 genomes]
rs4999757	0.80[EUR][1000 genomes]
rs55771778	1.00[AFR][1000 genomes]
rs56006000	1.00[AFR][1000 genomes]
rs56283957	1.00[AFR][1000 genomes]
rs67691062	0.95[EUR][1000 genomes]
rs72825130	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37382400-37383200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr17:37382600-37383200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr17:37382600-37383600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:37382600-37384000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr17:37382600-37385400	Weak transcription	K562	blood
6	chr17:37382600-37387800	Weak transcription	Lung	lung
7	chr17:37382800-37383200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr17:37382800-37383200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:37382800-37384200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:37382800-37385400	Weak transcription	A549	lung
11	chr17:37382800-37385400	Weak transcription	HMEC	breast
12	chr17:37382800-37387200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:37382800-37387400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:37382800-37387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:37382800-37387600	Weak transcription	Pancreas	Pancrea
16	chr17:37382800-37388000	Weak transcription	Right Ventricle	heart
17	chr17:37382800-37388200	Weak transcription	Right Atrium	heart
18	chr17:37383000-37383200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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

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