Variant report

Variant	rs12839968
Chromosome Location	chrX:31250856-31250857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12843613	1.00[CEU][hapmap]
rs16989468	1.00[CEU][hapmap]
rs4381108	1.00[CEU][hapmap]
rs5972348	1.00[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31228000-31253800	Weak transcription	Liver	Liver
2	chrX:31235000-31282000	Weak transcription	Left Ventricle	heart
3	chrX:31243200-31281800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chrX:31245200-31282000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chrX:31245400-31284000	Weak transcription	HSMMtube	muscle
6	chrX:31245600-31279800	Weak transcription	HepG2	liver
7	chrX:31247000-31280200	Weak transcription	Pancreas	Pancrea
8	chrX:31247600-31251000	Weak transcription	Fetal Heart	heart
9	chrX:31248200-31253200	Weak transcription	Primary B cells from peripheral blood	blood
10	chrX:31250000-31254400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chrX:31250200-31251400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chrX:31250200-31251800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:31250200-31253200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chrX:31250400-31251200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chrX:31250400-31252400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chrX:31250400-31253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chrX:31250400-31253400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chrX:31250600-31251000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chrX:31250600-31251200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chrX:31250600-31251400	Enhancers	H1 Cell Line	embryonic stem cell
21	chrX:31250600-31251400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:31250600-31251400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chrX:31250600-31251800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chrX:31250600-31253400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chrX:31250600-31253400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chrX:31250600-31255800	Enhancers	GM12878-XiMat	blood
27	chrX:31250800-31251200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chrX:31250800-31251600	Enhancers	Rectal Smooth Muscle	rectum
29	chrX:31250800-31253000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chrX:31250800-31253800	Weak transcription	Hela-S3	cervix

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