Variant report

Variant	rs373584415
Chromosome Location	chrX:139016425-139016426
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	POLR2A	chrX:139016210-139016503	K562	blood:	n/a	n/a
2	POLR2A	chrX:139013941-139016550	HepG2	liver:	n/a	n/a
3	HEY1	chrX:139014919-139016464	HepG2	liver:	n/a	chrX:139015003-139015018
4	POLR2A	chrX:139016094-139016436	HepG2	liver:	n/a	n/a
5	POLR2A	chrX:139014055-139016514	HepG2	liver:	n/a	n/a
6	HEY1	chrX:139016082-139016436	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:139003030..139006775-chrX:139014135..139016470,3	MCF-7	breast:
2	chrX:138963273..138965824-chrX:139016270..139017818,2	K562	blood:
3	chrX:138909179..138912021-chrX:139015740..139017279,2	K562	blood:

Variant related genes	Relation type
ATP11C	TF binding region
ENSG00000207633	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases
4	esv3365935	chrX:139012861-139016459	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139011800-139016800	Active TSS	HepG2	liver
2	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
3	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
4	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chrX:139013000-139016600	Active TSS	Liver	Liver
6	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
7	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum
8	chrX:139013000-139016600	Active TSS	A549	lung
9	chrX:139013400-139016600	Active TSS	Duodenum Mucosa	Duodenum
10	chrX:139014200-139016600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chrX:139015800-139018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chrX:139016200-139016600	Enhancers	K562	blood
13	chrX:139016200-139018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chrX:139016200-139018200	Weak transcription	Right Atrium	heart
15	chrX:139016200-139018400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chrX:139016200-139018400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chrX:139016200-139018400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chrX:139016400-139016600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chrX:139016400-139016600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chrX:139016400-139016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chrX:139016400-139016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chrX:139016400-139016600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chrX:139016400-139017400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chrX:139016400-139018200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chrX:139016400-139018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chrX:139016400-139018400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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