Variant report

Variant	rs187893938
Chromosome Location	chrX:139015930-139015931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

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	POLR2A	chrX:139013935-139016007	GM15510	blood:	n/a	n/a
3	MYC	chrX:139012928-139016014	K562	blood:	n/a	chrX:139014278-139014287
4	POLR2A	chrX:139013915-139016114	MCF-7	breast:	n/a	n/a
5	POLR2A	chrX:139013982-139015998	K562	blood:	n/a	n/a
6	POLR2A	chrX:139014672-139016168	PFSK-1	brain:	n/a	n/a
7	POLR2A	chrX:139014072-139016003	K562	blood:	n/a	n/a
8	POLR2A	chrX:139014079-139016038	K562	blood:	n/a	n/a
9	POLR2A	chrX:139012783-139016038	GM12891	blood:	n/a	n/a
10	POLR2A	chrX:139014096-139016018	IMR90	lung:	n/a	n/a
11	MAZ	chrX:139014243-139015987	HepG2	liver:	n/a	chrX:139014278-139014287
12	SIN3AK20	chrX:139014804-139016127	MCF-7	breast:	n/a	n/a
13	POLR2A	chrX:139013976-139016114	HUVEC	blood vessel:	n/a	n/a
14	GTF2F1	chrX:139015161-139016003	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chrX:139014075-139016071	NB4	blood:	n/a	n/a
16	POLR2A	chrX:139015289-139015958	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chrX:139014520-139016044	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chrX:139015405-139015937	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chrX:139014677-139015984	GM12878	blood:	n/a	n/a
20	POLR2A	chrX:139014817-139015979	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chrX:139014031-139016049	HEK293	kidney:	n/a	n/a
22	TAF1	chrX:139015532-139015980	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chrX:139015107-139016083	A549	lung:	n/a	n/a
24	POLR2A	chrX:139015016-139015969	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chrX:139013357-139016016	GM19193	blood:	n/a	n/a
26	MXI1	chrX:139013102-139016014	SK-N-SH	brain:	n/a	n/a
27	MAX	chrX:139015255-139016056	A549	lung:	n/a	n/a
28	STAT3	chrX:139015526-139016150	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chrX:139014439-139016035	HL-60	blood:	n/a	n/a
30	IRF1	chrX:139014944-139015978	K562	blood:	n/a	chrX:139015007-139015021 chrX:139015167-139015188 chrX:139015173-139015187
31	POLR2A	chrX:139014077-139015954	GM18505	blood:	n/a	n/a
32	HCFC1	chrX:139014170-139015994	K562	blood:	n/a	n/a
33	MAX	chrX:139014654-139016149	A549	lung:	n/a	n/a
34	MAX	chrX:139013202-139016014	NB4	blood:	n/a	chrX:139014278-139014287
35	POLR2A	chrX:139015606-139015945	A549	lung:	n/a	n/a
36	RAD21	chrX:139014576-139016126	SK-N-SH	brain:	n/a	n/a
37	RCOR1	chrX:139014091-139015956	K562	blood:	n/a	n/a
38	POLR2A	chrX:139014040-139015952	K562	blood:	n/a	n/a
39	POLR2A	chrX:139014017-139016133	ProgFib	skin:	n/a	n/a
40	MAX	chrX:139015192-139015954	Hela-S3	cervix:	n/a	n/a
41	BHLHE40	chrX:139013983-139015969	K562	blood:	n/a	chrX:139014481-139014497
42	POLR2A	chrX:139014083-139015981	GM18526	blood:	n/a	n/a
43	TBP	chrX:139014743-139016037	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chrX:139014099-139016139	A549	lung:	n/a	n/a
45	POLR2A	chrX:139014915-139016044	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chrX:139015004-139016009	K562	blood:	n/a	n/a
47	POLR2A	chrX:139013941-139016550	HepG2	liver:	n/a	n/a
48	POLR2A	chrX:139013624-139015995	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chrX:139015737-139015931	A549	lung:	n/a	n/a
50	STAT3	chrX:139015607-139016000	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:139015886-139015936	NHBE	bronchial:	n/a
2	chrX:139015886-139015936	H1-hESC	embryonic stem cell:	embryo
3	chrX:139015886-139015936	Caco-2	colon:	n/a
4	chrX:139015886-139015936	HRCEpiC	kidney:	n/a
5	chrX:139015886-139015936	GM06990	blood:	n/a
6	chrX:139015886-139015936	HCPEpiC	choroid plexus:	n/a
7	chrX:139015886-139015936	SK-N-MC	brain:	n/a
8	chrX:139015886-139015936	K562	blood:	n/a
9	chrX:139015886-139015936	SK-N-SH_RA	brain:	n/a
10	chrX:139015886-139015936	ovcar-3	ovarian:	n/a
11	chrX:139015886-139015936	NHDF-neo	bronchial:	n/a
12	chrX:139015886-139015936	HAEpiC	amniotic membrane:	n/a
13	chrX:139015886-139015936	GM12891	blood:	n/a
14	chrX:139015886-139015936	AG10803	skin:	n/a
15	chrX:139015886-139015936	PrEC	prostate:	n/a
16	chrX:139015886-139015936	HPAEpiC	pulmonary alveolar:	n/a
17	chrX:139015886-139015936	RPTEC	kidney:	n/a
18	chrX:139015886-139015936	AoSMC	blood vessel:	n/a
19	chrX:139015886-139015936	AG04450	lung:	fetal
20	chrX:139015886-139015936	HNPCEpiC	eye:	n/a
21	chrX:139015886-139015936	T-47D	breast:	n/a
22	chrX:139015886-139015936	ECC-1	luminal epithelium:	n/a
23	chrX:139015886-139015936	CMK	blood:	n/a
24	chrX:139015886-139015936	HIPEpiC	eye:	n/a
25	chrX:139015886-139015936	SKMC	muscle:	n/a
26	chrX:139015886-139015936	U87	brain:	n/a
27	chrX:139015886-139015936	Jurkat	blood:	n/a
28	chrX:139015886-139015936	NB4	blood:	n/a
29	chrX:139015886-139015936	ProgFib	skin:	n/a
30	chrX:139015886-139015936	LNCaP	prostate:	n/a
31	chrX:139015886-139015936	HEEpiC	esophagus:	n/a
32	chrX:139015886-139015936	HCT-116	colon:	n/a
33	chrX:139015886-139015936	HRPEpiC	eye:	n/a
34	chrX:139015886-139015936	NT2-D1	testis:	n/a
35	chrX:139015886-139015936	PANC-1	pancreas:	n/a
36	chrX:139015886-139015936	SK-N-SH	brain:	n/a
37	chrX:139015886-139015936	Hela-S3	cervix:	n/a
38	chrX:139015886-139015936	Hepatocyte	liver:	n/a
39	chrX:139015886-139015936	GM12892	blood:	n/a
40	chrX:139015886-139015936	IMR90	lung:	fetal
41	chrX:139015886-139015936	HMEC	breast:	n/a
42	chrX:139015886-139015936	NH-A	brain:	n/a
43	chrX:139015886-139015936	MCF10A-Er-Src	breast:	n/a
44	chrX:139015886-139015936	MCF-7	breast:	n/a
45	chrX:139015886-139015936	AG09319	gingival:	n/a
46	chrX:139015886-139015936	SAEC	small airway:	n/a
47	chrX:139015886-139015936	HL-60	blood:	n/a
48	chrX:139015886-139015936	AG09309	skin:	n/a
49	chrX:139015886-139015936	BE2_C	brain:	n/a
50	chrX:139015886-139015936	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:122932486..122933259-chrX:139015343..139016082,2	NB4	blood:
2	chrX:139003030..139006775-chrX:139014135..139016470,3	MCF-7	breast:
3	chrX:138772808..138775259-chrX:139014635..139016368,2	MCF-7	breast:
4	chrX:138909179..138912021-chrX:139015740..139017279,2	K562	blood:

No data

Variant related genes	Relation type
ATP11C	TF binding region
ATP11C	CpG island
ENSG00000207633	Chromatin interaction
ENSG00000101977	Chromatin interaction
ENSG00000109971	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:139012600-139016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chrX:139012600-139016000	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chrX:139012600-139016200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chrX:139012800-139016000	Active TSS	H1 Cell Line	embryonic stem cell
15	chrX:139012800-139016000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chrX:139012800-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chrX:139012800-139016200	Active TSS	Ovary	ovary
18	chrX:139012800-139016200	Active TSS	Right Atrium	heart
19	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chrX:139012800-139016400	Active TSS	Thymus	Thymus
21	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
22	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chrX:139013000-139016000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chrX:139013000-139016000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chrX:139013000-139016000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chrX:139013000-139016000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chrX:139013000-139016200	Active TSS	H9 Cell Line	embryonic stem cell
28	chrX:139013000-139016200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chrX:139013000-139016200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chrX:139013000-139016200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chrX:139013000-139016200	Active TSS	Muscle Satellite Cultured Cells	--
32	chrX:139013000-139016200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chrX:139013000-139016200	Active TSS	Colonic Mucosa	Colon
34	chrX:139013000-139016400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chrX:139013000-139016400	Active TSS	HSMM	muscle
36	chrX:139013000-139016400	Active TSS	Osteobl	bone
37	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chrX:139013000-139016600	Active TSS	Liver	Liver
39	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
40	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum
41	chrX:139013000-139016600	Active TSS	A549	lung
42	chrX:139013200-139016000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chrX:139013200-139016000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chrX:139013200-139016000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chrX:139013200-139016000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chrX:139013200-139016000	Active TSS	Aorta	Aorta
47	chrX:139013200-139016000	Active TSS	Esophagus	oesophagus
48	chrX:139013200-139016000	Active TSS	Fetal Kidney	kidney
49	chrX:139013200-139016000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chrX:139013200-139016000	Bivalent/Poised TSS	Fetal Stomach	stomach

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