Variant report

Variant	rs1723243
Chromosome Location	chr7:14788455-14788456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1120332	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11976755	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12333881	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs12333979	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs17168401	0.87[CEU][hapmap]
rs17168417	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs6461125	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs6944904	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs6946625	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962160	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs7784714	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs7784763	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs7788757	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs7789019	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs9639214	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs979500	0.82[CEU][hapmap]

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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887712	chr7:14717872-14829858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14784400-14789400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:14785800-14792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:14787000-14789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:14787200-14788600	Enhancers	NHDF-Ad	bronchial
5	chr7:14787200-14788600	Enhancers	Osteobl	bone
6	chr7:14787200-14788800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:14787400-14792200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:14787400-14801400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:14787800-14792000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:14788200-14789600	Enhancers	HUVEC	blood vessel
11	chr7:14788200-14793600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:14788400-14789200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:14788400-14794200	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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