Variant report

Variant	rs185373911
Chromosome Location	chrX:139015734-139015735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:139014429-139016020	HCT-116	colon:	n/a	n/a
2	TBL1XR1	chrX:139015101-139015779	K562	blood:	n/a	n/a
3	POLR2A	chrX:139013935-139016007	GM15510	blood:	n/a	n/a
4	MYC	chrX:139012928-139016014	K562	blood:	n/a	chrX:139014278-139014287
5	MAX	chrX:139014034-139015926	K562	blood:	n/a	chrX:139014278-139014287
6	POLR2A	chrX:139013915-139016114	MCF-7	breast:	n/a	n/a
7	POLR2A	chrX:139015733-139015929	HepG2	liver:	n/a	n/a
8	POLR2A	chrX:139013982-139015998	K562	blood:	n/a	n/a
9	POLR2A	chrX:139014672-139016168	PFSK-1	brain:	n/a	n/a
10	POLR2A	chrX:139014072-139016003	K562	blood:	n/a	n/a
11	POLR2A	chrX:139014079-139016038	K562	blood:	n/a	n/a
12	POLR2A	chrX:139012783-139016038	GM12891	blood:	n/a	n/a
13	POLR2A	chrX:139014096-139016018	IMR90	lung:	n/a	n/a
14	MAZ	chrX:139014243-139015987	HepG2	liver:	n/a	chrX:139014278-139014287
15	UBTF	chrX:139012818-139015888	K562	blood:	n/a	n/a
16	CHD1	chrX:139015452-139015834	H1-hESC	embryonic stem cell:	n/a	chrX:139015813-139015823
17	SIN3AK20	chrX:139014804-139016127	MCF-7	breast:	n/a	n/a
18	POLR2A	chrX:139013976-139016114	HUVEC	blood vessel:	n/a	n/a
19	GTF2F1	chrX:139015161-139016003	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chrX:139014075-139016071	NB4	blood:	n/a	n/a
21	POLR2A	chrX:139015289-139015958	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chrX:139014520-139016044	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chrX:139015405-139015937	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chrX:139014677-139015984	GM12878	blood:	n/a	n/a
25	POLR2A	chrX:139014817-139015979	HUVEC	blood vessel:	n/a	n/a
26	MAX	chrX:139014594-139015908	HepG2	liver:	n/a	n/a
27	POLR2A	chrX:139014031-139016049	HEK293	kidney:	n/a	n/a
28	TAF1	chrX:139015706-139015893	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chrX:139015636-139015924	HepG2	liver:	n/a	n/a
30	POLR2A	chrX:139014902-139015895	K562	blood:	n/a	n/a
31	PML	chrX:139014790-139015780	GM12878	blood:	n/a	n/a
32	TAF1	chrX:139015532-139015980	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chrX:139015107-139016083	A549	lung:	n/a	n/a
34	POLR2A	chrX:139015016-139015969	Hela-S3	cervix:	n/a	n/a
35	MYC	chrX:139015627-139015793	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chrX:139013357-139016016	GM19193	blood:	n/a	n/a
37	MXI1	chrX:139013102-139016014	SK-N-SH	brain:	n/a	n/a
38	MAX	chrX:139015054-139015825	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chrX:139015656-139015896	SK-N-SH	brain:	n/a	n/a
40	MAX	chrX:139015255-139016056	A549	lung:	n/a	n/a
41	STAT3	chrX:139015526-139016150	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chrX:139014439-139016035	HL-60	blood:	n/a	n/a
43	IRF1	chrX:139014944-139015978	K562	blood:	n/a	chrX:139015007-139015021 chrX:139015167-139015188 chrX:139015173-139015187
44	POLR2A	chrX:139014077-139015954	GM18505	blood:	n/a	n/a
45	HCFC1	chrX:139014170-139015994	K562	blood:	n/a	n/a
46	MAX	chrX:139014654-139016149	A549	lung:	n/a	n/a
47	MAX	chrX:139013202-139016014	NB4	blood:	n/a	chrX:139014278-139014287
48	POLR2A	chrX:139015606-139015945	A549	lung:	n/a	n/a
49	RAD21	chrX:139014576-139016126	SK-N-SH	brain:	n/a	n/a
50	RCOR1	chrX:139014091-139015956	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:4853164..4854128-chrX:139015400..139015911,2	Hela-S3	cervix:
2	chr11:122932486..122933259-chrX:139015343..139016082,2	NB4	blood:
3	chrX:139003030..139006775-chrX:139014135..139016470,3	MCF-7	breast:
4	chrX:138772808..138775259-chrX:139014635..139016368,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP11C	TF binding region
ENSG00000101977	Chromatin interaction
ENSG00000109971	Chromatin interaction
ENSG00000108515	Chromatin interaction
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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139011000-139016000	Active TSS	GM12878-XiMat	blood
2	chrX:139011800-139016800	Active TSS	HepG2	liver
3	chrX:139012000-139016000	Active TSS	NHEK	skin
4	chrX:139012200-139016000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:139012200-139016200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chrX:139012200-139016200	Active TSS	NHDF-Ad	bronchial
7	chrX:139012200-139016400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chrX:139012200-139016400	Active TSS	NHLF	lung
9	chrX:139012400-139016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chrX:139012400-139016400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chrX:139012600-139015800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chrX:139012600-139015800	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chrX:139012600-139016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chrX:139012600-139016000	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chrX:139012600-139016200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chrX:139012800-139016000	Active TSS	H1 Cell Line	embryonic stem cell
17	chrX:139012800-139016000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chrX:139012800-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chrX:139012800-139016200	Active TSS	Ovary	ovary
20	chrX:139012800-139016200	Active TSS	Right Atrium	heart
21	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chrX:139012800-139016400	Active TSS	Thymus	Thymus
23	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
24	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chrX:139013000-139015800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chrX:139013000-139015800	Active TSS	Fetal Thymus	thymus
27	chrX:139013000-139015800	Active TSS	HMEC	breast
28	chrX:139013000-139015800	Active TSS	K562	blood
29	chrX:139013000-139015800	Active TSS	NH-A	brain
30	chrX:139013000-139016000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chrX:139013000-139016000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chrX:139013000-139016000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chrX:139013000-139016000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chrX:139013000-139016200	Active TSS	H9 Cell Line	embryonic stem cell
35	chrX:139013000-139016200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chrX:139013000-139016200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chrX:139013000-139016200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
38	chrX:139013000-139016200	Active TSS	Muscle Satellite Cultured Cells	--
39	chrX:139013000-139016200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chrX:139013000-139016200	Active TSS	Colonic Mucosa	Colon
41	chrX:139013000-139016400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chrX:139013000-139016400	Active TSS	HSMM	muscle
43	chrX:139013000-139016400	Active TSS	Osteobl	bone
44	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chrX:139013000-139016600	Active TSS	Liver	Liver
46	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
47	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum
48	chrX:139013000-139016600	Active TSS	A549	lung
49	chrX:139013200-139015800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chrX:139013200-139015800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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