Variant report

Variant	rs1511685
Chromosome Location	chr7:79943045-79943046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1912807	1.00[AMR][1000 genomes]
rs62462669	1.00[AMR][1000 genomes]
rs6467090	1.00[AMR][1000 genomes]
rs72612616	1.00[AMR][1000 genomes]
rs7800052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:79939400-79943400	Enhancers	HUVEC	blood vessel
3	chr7:79940800-79943400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:79941600-79943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:79941800-79943400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:79941800-79943800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:79941800-79943800	Enhancers	NHEK	skin
8	chr7:79941800-79946000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:79941800-79946600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:79942000-79943800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:79942000-79945800	Weak transcription	Fetal Intestine Large	intestine
12	chr7:79942000-79947000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:79942800-79952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:79943000-79943200	Enhancers	Gastric	stomach
15	chr7:79943000-79943800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:79943000-79947200	Weak transcription	HMEC	breast

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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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