Variant report

Variant	rs6630949
Chromosome Location	chrX:29750572-29750573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4128143	0.83[TSI][hapmap]
rs4829288	0.81[GIH][hapmap];0.88[TSI][hapmap]
rs4829289	0.81[GIH][hapmap];0.88[TSI][hapmap]
rs5927155	0.88[GIH][hapmap];0.94[TSI][hapmap]
rs5927181	0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap]
rs5928236	0.83[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap]
rs5928246	0.81[GIH][hapmap];0.88[TSI][hapmap]
rs5928330	0.91[GIH][hapmap];0.85[TSI][hapmap]
rs5928332	0.81[GIH][hapmap]
rs5972702	0.85[JPT][hapmap]
rs5972703	0.85[JPT][hapmap]
rs6526897	0.84[JPT][hapmap]
rs6526916	0.82[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs6630946	0.88[CHD][hapmap];0.92[JPT][hapmap]
rs6630950	0.81[GIH][hapmap];0.94[TSI][hapmap]
rs7057181	0.86[TSI][hapmap]
rs7472212	0.88[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432292	chrX:29109744-29845461	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv531766	chrX:29225499-29928832	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv948944	chrX:29398264-29902917	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv869450	chrX:29433295-29940875	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv869408	chrX:29619835-30341063	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv534236	chrX:29637266-29908300	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv949460	chrX:29680441-29902917	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3444759	chrX:29712431-29786229	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv531097	chrX:29731388-29759068	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29747400-29750800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:29749600-29750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chrX:29749600-29750800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chrX:29749600-29750800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chrX:29749800-29750800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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