Variant report

Variant	rs191896271
Chromosome Location	chrX:139016036-139016037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:139013915-139016114	MCF-7	breast:	n/a	n/a
2	POLR2A	chrX:139014672-139016168	PFSK-1	brain:	n/a	n/a
3	POLR2A	chrX:139014079-139016038	K562	blood:	n/a	n/a
4	POLR2A	chrX:139012783-139016038	GM12891	blood:	n/a	n/a
5	SIN3AK20	chrX:139014804-139016127	MCF-7	breast:	n/a	n/a
6	POLR2A	chrX:139013976-139016114	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chrX:139014075-139016071	NB4	blood:	n/a	n/a
8	POLR2A	chrX:139014520-139016044	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chrX:139014031-139016049	HEK293	kidney:	n/a	n/a
10	MAX	chrX:139015107-139016083	A549	lung:	n/a	n/a
11	MAX	chrX:139015255-139016056	A549	lung:	n/a	n/a
12	STAT3	chrX:139015526-139016150	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chrX:139014654-139016149	A549	lung:	n/a	n/a
14	RAD21	chrX:139014576-139016126	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chrX:139014017-139016133	ProgFib	skin:	n/a	n/a
16	TBP	chrX:139014743-139016037	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chrX:139014099-139016139	A549	lung:	n/a	n/a
18	POLR2A	chrX:139014915-139016044	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chrX:139013941-139016550	HepG2	liver:	n/a	n/a
20	EP300	chrX:139015781-139016142	K562	blood:	n/a	n/a
21	POLR2A	chrX:139014108-139016040	A549	lung:	n/a	n/a
22	SMARCB1	chrX:139013901-139016316	Hela-S3	cervix:	n/a	chrX:139015316-139015325
23	POLR2A	chrX:139014092-139016170	PBDE	blood:	n/a	n/a
24	SP1	chrX:139015616-139016066	A549	lung:	n/a	chrX:139015691-139015701
25	POLR2A	chrX:139014837-139016100	PFSK-1	brain:	n/a	n/a
26	POLR2A	chrX:139014620-139016128	SK-N-MC	brain:	n/a	n/a
27	HEY1	chrX:139014919-139016464	HepG2	liver:	n/a	chrX:139015003-139015018
28	POLR2A	chrX:139014064-139016111	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chrX:139012444-139016234	K562	blood:	n/a	chrX:139014278-139014287
30	TAF1	chrX:139014936-139016043	A549	lung:	n/a	n/a
31	MAZ	chrX:139013849-139016089	IMR90	lung:	n/a	chrX:139014278-139014287
32	RCOR1	chrX:139015858-139016058	HepG2	liver:	n/a	n/a
33	POLR2A	chrX:139014128-139016096	Gliobla	brain:	n/a	n/a
34	TBP	chrX:139014071-139016072	K562	blood:	n/a	n/a
35	POLR2A	chrX:139014069-139016403	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chrX:139014876-139016161	A549	lung:	n/a	n/a
37	POLR2A	chrX:139014099-139016126	MCF-7	breast:	n/a	n/a
38	POLR2A	chrX:139013946-139016075	K562	blood:	n/a	n/a
39	POLR2A	chrX:139015496-139016133	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chrX:139014140-139016250	HepG2	liver:	n/a	n/a
41	HCFC1	chrX:139014802-139016124	Hela-S3	cervix:	n/a	n/a
42	MXI1	chrX:139013149-139016136	IMR90	lung:	n/a	n/a
43	POLR2A	chrX:139014055-139016514	HepG2	liver:	n/a	n/a
44	TCF7L2	chrX:139015559-139016115	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chrX:139014129-139016136	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chrX:139013988-139016392	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chrX:139014450-139016125	MCF-7	breast:	n/a	n/a
48	POLR2A	chrX:139015279-139016038	HUVEC	blood vessel:	n/a	n/a
49	STAT3	chrX:139015808-139016084	MCF10A-Er-Src	breast:	n/a	n/a
50	ELF1	chrX:139014362-139016038	GM12878	blood:	n/a	chrX:139014946-139014959 chrX:139015404-139015417 chrX:139014601-139014613

No data

(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
ENSG00000109971	Chromatin interaction
ENSG00000101977	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139011800-139016800	Active TSS	HepG2	liver
2	chrX:139012200-139016200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chrX:139012200-139016200	Active TSS	NHDF-Ad	bronchial
4	chrX:139012200-139016400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chrX:139012200-139016400	Active TSS	NHLF	lung
6	chrX:139012400-139016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chrX:139012400-139016400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chrX:139012600-139016200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chrX:139012800-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chrX:139012800-139016200	Active TSS	Ovary	ovary
11	chrX:139012800-139016200	Active TSS	Right Atrium	heart
12	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chrX:139012800-139016400	Active TSS	Thymus	Thymus
14	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
15	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
16	chrX:139013000-139016200	Active TSS	H9 Cell Line	embryonic stem cell
17	chrX:139013000-139016200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chrX:139013000-139016200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chrX:139013000-139016200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chrX:139013000-139016200	Active TSS	Muscle Satellite Cultured Cells	--
21	chrX:139013000-139016200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chrX:139013000-139016200	Active TSS	Colonic Mucosa	Colon
23	chrX:139013000-139016400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chrX:139013000-139016400	Active TSS	HSMM	muscle
25	chrX:139013000-139016400	Active TSS	Osteobl	bone
26	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chrX:139013000-139016600	Active TSS	Liver	Liver
28	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
29	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum
30	chrX:139013000-139016600	Active TSS	A549	lung
31	chrX:139013200-139016200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chrX:139013200-139016200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chrX:139013200-139016200	Active TSS	Brain Anterior Caudate	brain
34	chrX:139013200-139016200	Active TSS	Brain Cingulate Gyrus	brain
35	chrX:139013200-139016200	Active TSS	Brain Hippocampus Middle	brain
36	chrX:139013200-139016200	Active TSS	Colon Smooth Muscle	Colon
37	chrX:139013200-139016400	Active TSS	Psoas Muscle	Psoas
38	chrX:139013200-139016400	Active TSS	Stomach Mucosa	stomach
39	chrX:139013400-139016200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chrX:139013400-139016200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chrX:139013400-139016200	Active TSS	Brain Substantia Nigra	brain
42	chrX:139013400-139016200	Active TSS	HSMMtube	muscle
43	chrX:139013400-139016400	Active TSS	Pancreas	Pancrea
44	chrX:139013400-139016600	Active TSS	Duodenum Mucosa	Duodenum
45	chrX:139013600-139016200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chrX:139013800-139016200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chrX:139014200-139016600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chrX:139014600-139016400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chrX:139015000-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:139015400-139016400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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