Variant report

Variant	rs12391433
Chromosome Location	chrX:31254563-31254564
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1882263	0.86[CEU][hapmap]
rs5971561	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv521510	chrX:31231672-31255002	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31235000-31282000	Weak transcription	Left Ventricle	heart
2	chrX:31243200-31281800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:31245200-31282000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chrX:31245400-31284000	Weak transcription	HSMMtube	muscle
5	chrX:31245600-31279800	Weak transcription	HepG2	liver
6	chrX:31247000-31280200	Weak transcription	Pancreas	Pancrea
7	chrX:31250600-31255800	Enhancers	GM12878-XiMat	blood
8	chrX:31251400-31256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:31251600-31254800	Weak transcription	Fetal Heart	heart
10	chrX:31253200-31255200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chrX:31253200-31256200	Enhancers	Primary B cells from peripheral blood	blood
12	chrX:31253400-31255400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chrX:31253400-31256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chrX:31253400-31256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chrX:31253800-31259800	Strong transcription	Hela-S3	cervix
16	chrX:31254000-31283200	Weak transcription	Fetal Intestine Small	intestine
17	chrX:31254200-31255000	Weak transcription	Primary B cells from cord blood	blood
18	chrX:31254200-31275200	Weak transcription	Liver	Liver
19	chrX:31254400-31256200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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