Variant report

Variant	rs362698
Chromosome Location	chr7:103277292-103277293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1012063	0.81[ASN][1000 genomes]
rs10235411	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10236190	0.93[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10241716	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10246285	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257108	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10258991	0.84[ASN][1000 genomes]
rs11974325	0.85[ASN][1000 genomes]
rs11981312	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs12671085	0.84[ASN][1000 genomes]
rs12671105	0.84[ASN][1000 genomes]
rs2058381	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv516122	chr7:103274567-103291825	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs362698	ZKSCAN5	cis	parietal	SCAN
rs362698	FBXL13	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103273000-103283600	Weak transcription	K562	blood
2	chr7:103274400-103277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:103276600-103278800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:103276600-103279200	Enhancers	HMEC	breast
5	chr7:103276800-103277400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:103276800-103277800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:103276800-103279000	Enhancers	NH-A	brain
8	chr7:103276800-103279000	Enhancers	NHLF	lung
9	chr7:103276800-103279200	Enhancers	Osteobl	bone
10	chr7:103277000-103278800	Enhancers	NHEK	skin
11	chr7:103277000-103279000	Enhancers	Hela-S3	cervix
12	chr7:103277000-103279000	Enhancers	HUVEC	blood vessel
13	chr7:103277000-103281200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:103277000-103281200	Enhancers	NHDF-Ad	bronchial
15	chr7:103277000-103289200	Weak transcription	HepG2	liver
16	chr7:103277200-103277600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:103277200-103278600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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

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