Variant report

Variant	rs691555
Chromosome Location	chr7:129135770-129135771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1248452	0.91[ASN][1000 genomes]
rs12667232	0.86[CHD][hapmap]
rs12671604	0.86[CHD][hapmap]
rs598412	0.81[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs639663	0.94[ASN][1000 genomes]
rs639696	0.91[ASN][1000 genomes]
rs642755	0.94[ASN][1000 genomes]
rs644723	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap]
rs657528	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs691124	0.93[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap]
rs691158	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs691435	0.93[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap]
rs692597	0.91[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs692625	0.84[ASN][1000 genomes]
rs692697	0.81[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.83[TSI][hapmap]
rs712689	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs753336	0.86[CHD][hapmap]
rs966481	0.86[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
2	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
4	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
5	chr7:129126000-129136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:129129400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:129129600-129135800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:129129600-129141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:129133600-129135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:129133600-129141600	Weak transcription	Primary T cells from cord blood	blood
11	chr7:129134000-129141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:129134400-129139600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:129134400-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:129135400-129136000	Enhancers	HepG2	liver
15	chr7:129135400-129136200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:129135400-129139800	Weak transcription	GM12878-XiMat	blood
17	chr7:129135600-129135800	Enhancers	HSMMtube	muscle
18	chr7:129135600-129135800	Weak transcription	K562	blood

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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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