Variant report

Variant	rs756174
Chromosome Location	chr1:215592497-215592498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10864166	0.81[CEU][hapmap]
rs11120581	0.80[CEU][hapmap]
rs1319603	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507298	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17024500	0.81[CEU][hapmap]
rs1819739	0.92[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap]
rs1911546	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2089427	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2202677	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5025775	0.81[CEU][hapmap]
rs6540886	0.80[CEU][hapmap]
rs7539365	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv832537	chr1:215509026-215705105	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1014266	chr1:215573051-215730838	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 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	chr1:215590000-215593000	Enhancers	Osteobl	bone
2	chr1:215590600-215592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:215590600-215594400	Weak transcription	NHDF-Ad	bronchial
4	chr1:215590800-215594800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:215592000-215592600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:215592000-215592600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:215592200-215592600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:215592200-215592600	Enhancers	HMEC	breast
9	chr1:215592200-215592800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:215592200-215592800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:215592200-215592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:215592200-215592800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:215592200-215593000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:215592200-215593000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:215592400-215594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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