Variant report

Variant	rs10951388
Chromosome Location	chr7:33461577-33461578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10273634	0.80[JPT][hapmap]
rs10951386	0.84[ASN][1000 genomes]
rs12668888	0.81[JPT][hapmap]
rs12668971	0.95[CEU][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12701295	0.84[ASN][1000 genomes]
rs1420150	0.81[JPT][hapmap]
rs17170176	0.80[JPT][hapmap]
rs17170255	0.83[JPT][hapmap]
rs17725162	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4442031	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6462473	0.84[CEU][hapmap]
rs6462478	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7777332	0.95[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:33454800-33476800	Weak transcription	Aorta	Aorta
2	chr7:33455200-33462600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:33458200-33462600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:33458200-33466400	Weak transcription	Esophagus	oesophagus
5	chr7:33458400-33462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:33458400-33465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:33458400-33465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:33458800-33462600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:33460200-33462600	Weak transcription	Psoas Muscle	Psoas
10	chr7:33460600-33462400	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:33460600-33463000	Enhancers	Fetal Lung	lung
12	chr7:33461200-33461600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:33461200-33463200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:33461400-33465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:33461400-33465000	Weak transcription	Stomach Smooth Muscle	stomach

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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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