Variant report

Variant	rs511721
Chromosome Location	chrX:73679419-73679420
allele	C/T
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]
rs11093451	0.86[CHB][hapmap]
rs1263181	0.86[LWK][hapmap];0.82[YRI][hapmap]
rs12688747	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs1634626	0.93[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1926864	0.87[CHB][hapmap];0.81[MEX][hapmap]
rs4892383	0.93[CEU][hapmap];0.87[CHB][hapmap]
rs4892510	0.93[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs517624	0.93[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs563433	1.00[CHB][hapmap]
rs5937843	0.93[CEU][hapmap]
rs5981273	0.86[CHB][hapmap]
rs5981631	0.93[CEU][hapmap];0.87[CHB][hapmap]
rs6607472	0.93[CEU][hapmap];0.87[CHB][hapmap]
rs6607474	0.93[CEU][hapmap];0.87[CHB][hapmap]
rs6647052	1.00[CHB][hapmap]
rs6647493	0.92[CEU][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];0.82[TSI][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	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv521472	chrX:73656415-73878101	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73660200-73681600	Weak transcription	Brain Hippocampus Middle	brain
2	chrX:73672200-73691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chrX:73675800-73685200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chrX:73677800-73681200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chrX:73678400-73679600	Enhancers	NHEK	skin
6	chrX:73678600-73679600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chrX:73678600-73679800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chrX:73678600-73680000	Enhancers	HSMMtube	muscle
9	chrX:73679000-73679600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chrX:73679000-73680000	Weak transcription	A549	lung
11	chrX:73679200-73679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chrX:73679200-73680200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chrX:73679400-73679800	Enhancers	Thymus	Thymus
14	chrX:73679400-73687400	Weak transcription	HMEC	breast

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links