Variant report

Variant	rs1950113
Chromosome Location	chrX:31321018-31321019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12008257	0.84[CHB][hapmap]
rs12008262	0.84[CHB][hapmap]
rs1921382	1.00[CEU][hapmap]
rs2404506	0.84[CHB][hapmap]
rs2404507	0.84[CHB][hapmap]
rs4419978	0.84[CHB][hapmap]
rs5972364	1.00[CEU][hapmap]
rs5972366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5972372	0.84[CHB][hapmap]
rs7065597	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7066813	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530449	chrX:30962926-31375215	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv869389	chrX:31207964-31963300	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv481896	chrX:31212683-31546984	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3407256	chrX:31214281-31548379	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv481964	chrX:31270220-31672751	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3435733	chrX:31293831-31349629	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv519609	chrX:31300162-31322094	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31320200-31321400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chrX:31320200-31323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chrX:31320400-31321400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:31320400-31321400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chrX:31320800-31322400	Enhancers	Liver	Liver
6	chrX:31321000-31321400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chrX:31321000-31321600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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