Variant report

Variant	rs12687271
Chromosome Location	chrX:31516634-31516635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10521969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10521976	1.00[JPT][hapmap]
rs12687451	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12687453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12687510	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12687514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12689288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989684	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989685	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16989708	1.00[YRI][hapmap]
rs16998200	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17283225	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3827455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4478725	1.00[JPT][hapmap]
rs5972417	1.00[JPT][hapmap]
rs5972422	1.00[JPT][hapmap]
rs5972426	1.00[JPT][hapmap]
rs6527109	1.00[JPT][hapmap]
rs6631344	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv2758567	chrX:31363616-31519148	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3447095	chrX:31441731-31519629	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv491930	chrX:31449215-31543991	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv531098	chrX:31462522-31824884	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv481719	chrX:31470100-31807209	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv525349	chrX:31491980-31527555	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv527085	chrX:31491980-31577462	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv522266	chrX:31502157-31554545	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 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:31513000-31526000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chrX:31514800-31519400	Enhancers	HUVEC	blood vessel
3	chrX:31515200-31519000	Weak transcription	Colon Smooth Muscle	Colon
4	chrX:31515600-31516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chrX:31515800-31516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chrX:31515800-31517000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chrX:31515800-31517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chrX:31515800-31517000	Weak transcription	Hela-S3	cervix
9	chrX:31516000-31517000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chrX:31516000-31517000	Weak transcription	HMEC	breast
11	chrX:31516600-31517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:31516600-31517400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:31516600-31518000	Enhancers	Muscle Satellite Cultured Cells	--
14	chrX:31516600-31519000	Weak transcription	Osteobl	bone

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