Variant report

Variant	rs12391957
Chromosome Location	chrX:31192132-31192133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrX:31192128-31192205	GM20000	blood:	n/a	n/a
2	RCOR1	chrX:31192102-31192145	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
DMD	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12557265	1.00[CEU][hapmap]
rs12557283	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12687954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap]
rs1484854	1.00[CEU][hapmap]
rs1484855	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs1921385	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs1921386	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.93[TSI][hapmap]
rs1921388	0.84[CHB][hapmap];0.81[CHD][hapmap];0.93[TSI][hapmap]
rs1921392	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1921394	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1921395	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1921710	0.84[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs2178538	1.00[CEU][hapmap]
rs2404495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap]
rs2404496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2404497	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2896876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs3747385	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs3788887	0.91[CEU][hapmap]
rs426228	0.82[CEU][hapmap]
rs436628	0.83[CEU][hapmap]
rs4397574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4829210	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs5926987	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs5927688	0.86[CHB][hapmap]
rs5972322	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5972325	0.90[CEU][hapmap]
rs5972328	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6527061	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs6527062	1.00[CEU][hapmap]
rs6653848	1.00[CEU][hapmap]
rs7057738	1.00[CEU][hapmap]
rs9988310	0.91[CEU][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3416705	chrX:31099481-31213379	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31140200-31227600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chrX:31140600-31206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chrX:31156800-31224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chrX:31161800-31199800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chrX:31163000-31209000	Weak transcription	Ovary	ovary
7	chrX:31164600-31196000	Weak transcription	Left Ventricle	heart
8	chrX:31165000-31203400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chrX:31166000-31196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chrX:31173600-31193600	Strong transcription	Hela-S3	cervix
11	chrX:31177800-31202800	Weak transcription	Brain Angular Gyrus	brain
12	chrX:31182000-31227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chrX:31183000-31199800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chrX:31184400-31197200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chrX:31185000-31200600	Weak transcription	Pancreas	Pancrea
16	chrX:31186400-31196400	Weak transcription	HSMMtube	muscle
17	chrX:31186800-31201800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chrX:31186800-31203200	Weak transcription	Fetal Muscle Leg	muscle
19	chrX:31186800-31217600	Weak transcription	Fetal Intestine Small	intestine
20	chrX:31187000-31196000	Weak transcription	Adipose Nuclei	Adipose
21	chrX:31187800-31195400	Weak transcription	GM12878-XiMat	blood
22	chrX:31190200-31195800	Weak transcription	Liver	Liver
23	chrX:31190400-31196800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chrX:31190800-31195800	Weak transcription	HepG2	liver
25	chrX:31190800-31198200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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