Variant report

Variant	nsv532879
Chromosome Location	chrX:74463757-74592761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:673)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:74494954-74495074	K562	blood:	n/a	n/a
2	ARID3A	chrX:74493738-74494608	HepG2	liver:	n/a	n/a
3	ATF1	chrX:74493701-74494122	K562	blood:	n/a	n/a
4	ATF2	chrX:74498817-74499190	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chrX:74498829-74499126	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chrX:74493650-74493945	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chrX:74578832-74578865	GM12878	blood:	n/a	n/a
8	BHLHE40	chrX:74493550-74494342	K562	blood:	n/a	n/a
9	BHLHE40	chrX:74523877-74523904	K562	blood:	n/a	n/a
10	BHLHE40	chrX:74493642-74494610	GM12878	blood:	n/a	n/a
11	BHLHE40	chrX:74494644-74494801	K562	blood:	n/a	n/a
12	BHLHE40	chrX:74493639-74494340	HepG2	liver:	n/a	n/a
13	BRCA1	chrX:74493784-74494525	Hela-S3	cervix:	n/a	n/a
14	CBX3	chrX:74493817-74494098	K562	blood:	n/a	n/a
15	CCNT2	chrX:74493353-74493688	K562	blood:	n/a	n/a
16	CEBPB	chrX:74579714-74579944	A549	lung:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
17	CEBPB	chrX:74493710-74494592	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chrX:74579700-74579984	HepG2	liver:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
19	CEBPB	chrX:74523576-74523952	IMR90	lung:	n/a	n/a
20	CEBPB	chrX:74579701-74579962	IMR90	lung:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
21	CEBPB	chrX:74579749-74579968	K562	blood:	n/a	chrX:74579811-74579822 chrX:74579813-74579822 chrX:74579811-74579824 chrX:74579812-74579823
22	CEBPB	chrX:74523680-74523811	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chrX:74494290-74494514	IMR90	lung:	n/a	n/a
24	CHD1	chrX:74493860-74494061	GM12878	blood:	n/a	n/a
25	CHD2	chrX:74493674-74494439	GM12878	blood:	n/a	n/a
26	CHD2	chrX:74493690-74494053	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chrX:74493468-74494152	K562	blood:	n/a	n/a
28	CHD2	chrX:74493598-74494665	Hela-S3	cervix:	n/a	n/a
29	CHD2	chrX:74493737-74494004	HepG2	liver:	n/a	n/a
30	CREB1	chrX:74493588-74494589	HepG2	liver:	n/a	n/a
31	CREB1	chrX:74493610-74494082	ECC-1	luminal epithelium:	n/a	n/a
32	CREB1	chrX:74493528-74494257	GM12878	blood:	n/a	n/a
33	CREB1	chrX:74493565-74494184	HepG2	liver:	n/a	n/a
34	CREB1	chrX:74493683-74494362	A549	lung:	n/a	n/a
35	CREB1	chrX:74493655-74493949	A549	lung:	n/a	n/a
36	CREB1	chrX:74493616-74494122	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chrX:74493560-74494185	GM12878	blood:	n/a	n/a
38	CREB1	chrX:74493594-74494128	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chrX:74494280-74494430	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chrX:74490450-74490539	GM10248	blood:	n/a	n/a
41	CTCF	chrX:74494720-74494870	GM12873	blood:	n/a	n/a
42	CTCF	chrX:74494300-74494450	HMEC	breast:	n/a	n/a
43	CTCF	chrX:74494374-74494450	MCF-7	breast:	n/a	n/a
44	CTCF	chrX:74482594-74482717	GM10248	blood:	n/a	n/a
45	CTCF	chrX:74494300-74494450	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chrX:74494680-74494830	GM12865	blood:	n/a	n/a
47	CTCF	chrX:74494240-74494390	GM06990	blood:	n/a	n/a
48	CTCF	chrX:74502694-74502764	GM10266	blood:	n/a	n/a
49	CTCF	chrX:74572996-74573000	Medullo	brain:	n/a	n/a
50	CTCF	chrX:74483206-74483275	GM10266	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:74524038-74524088	SK-N-SH_RA	brain:	n/a
2	chrX:74493779-74493829	HRE	kidney:	n/a
3	chrX:74524038-74524088	SK-N-SH_RA	brain:	n/a
4	chrX:74493779-74493829	HRE	kidney:	n/a
5	chrX:74493807-74493857	Hela-S3	cervix:	n/a
6	chrX:74493908-74493958	A549	lung:	n/a
7	chrX:74493352-74493402	RPTEC	kidney:	n/a
8	chrX:74524038-74524088	SK-N-SH	brain:	n/a
9	chrX:74493779-74493829	HMEC	breast:	n/a
10	chrX:74524038-74524088	HCT-116	colon:	n/a
11	chrX:74493592-74493642	Jurkat	blood:	n/a
12	chrX:74493352-74493402	GM12878	blood:	n/a
13	chrX:74493352-74493402	PFSK-1	brain:	n/a
14	chrX:74493352-74493402	HRCEpiC	kidney:	n/a
15	chrX:74516489-74516539	HCM	heart:	n/a
16	chrX:74493592-74493642	H1-hESC	embryonic stem cell:	embryo
17	chrX:74493847-74493897	NT2-D1	testis:	n/a
18	chrX:74493844-74493894	HCT-116	colon:	n/a
19	chrX:74524038-74524088	ovcar-3	ovarian:	n/a
20	chrX:74493908-74493958	Jurkat	blood:	n/a
21	chrX:74493352-74493402	NT2-D1	testis:	n/a
22	chrX:74493908-74493958	AG09309	skin:	n/a
23	chrX:74493352-74493402	BE2_C	brain:	n/a
24	chrX:74590752-74590802	HMEC	breast:	n/a
25	chrX:74524038-74524088	AG10803	skin:	n/a
26	chrX:74493847-74493897	GM12891	blood:	n/a
27	chrX:74516489-74516539	HPAEpiC	pulmonary alveolar:	n/a
28	chrX:74590752-74590802	SK-N-SH_RA	brain:	n/a
29	chrX:74493779-74493829	HRPEpiC	eye:	n/a
30	chrX:74493844-74493894	H1-hESC	embryonic stem cell:	embryo
31	chrX:74493592-74493642	HCM	heart:	n/a
32	chrX:74493844-74493894	NT2-D1	testis:	n/a
33	chrX:74494066-74494116	HEEpiC	esophagus:	n/a
34	chrX:74516489-74516539	CMK	blood:	n/a
35	chrX:74493352-74493402	IMR90	lung:	fetal
36	chrX:74493592-74493642	ECC-1	luminal epithelium:	n/a
37	chrX:74493779-74493829	SK-N-MC	brain:	n/a
38	chrX:74494066-74494116	HCM	heart:	n/a
39	chrX:74493592-74493642	HIPEpiC	eye:	n/a
40	chrX:74516489-74516539	PANC-1	pancreas:	n/a
41	chrX:74493352-74493402	PrEC	prostate:	n/a
42	chrX:74516489-74516539	SK-N-SH_RA	brain:	n/a
43	chrX:74493847-74493897	SK-N-MC	brain:	n/a
44	chrX:74493779-74493829	HCF	heart:	n/a
45	chrX:74493779-74493829	Hela-S3	cervix:	n/a
46	chrX:74524038-74524088	NHDF-neo	bronchial:	n/a
47	chrX:74493779-74493829	HUVEC	blood vessel:	n/a
48	chrX:74493908-74493958	AG09319	gingival:	n/a
49	chrX:74493847-74493897	HRCEpiC	kidney:	n/a
50	chrX:74493352-74493402	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chrX:74521044..74522669-chrX:74524864..74527792,2	MCF-7	breast:
2	chrX:74521044..74522669-chrX:74524864..74527792,2	MCF-7	breast:
3	chrX:74493535..74495551-chrX:74497269..74499102,2	MCF-7	breast:
4	chr16:22218002..22218601-chrX:74591240..74592111,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC15-1	chrX:74590369-74591027	NONHSAT137659
2	lnc-UPRT-2	chrX:74544124-74546232	NONHSAT137657
3	lnc-ZDHHC15-3	chrX:74546607-74547834	NONHSAT137658
4	lnc-ZDHHC15-1	chrX:74588262-74590358	NONHSAT137659

No data

Variant related genes	Relation type
UPRT	TF binding region
ENSG00000232186	TF binding region
UPRT	CpG island
ENSG00000232186	CpG island
ENSG00000094841	chromatin interactions

Extended variants
information (count: 1480 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1480 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148369958	chrX:74466824-74466825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189064343	chrX:74466952-74466953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192673149	chrX:74467032-74467033	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201174164	chrX:74467108-74467109	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185060617	chrX:74467172-74467173	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79086039	chrX:74467174-74467175	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77167593	chrX:74467183-74467184	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188974778	chrX:74467202-74467203	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76433189	chrX:74467217-74467218	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78106221	chrX:74467245-74467246	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371136536	chrX:74467273-74467274	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76847281	chrX:74467295-74467296	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180939265	chrX:74467387-74467388	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186323941	chrX:74467412-74467413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565840035	chrX:74467487-74467488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189546004	chrX:74467492-74467493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182004957	chrX:74467500-74467501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539593443	chrX:74467587-74467588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs137969058	chrX:74480623-74480624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527517805	chrX:74480653-74480654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3133993	chrX:74480679-74480680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs3115931	chrX:74480719-74480720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142357908	chrX:74480808-74480809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192910624	chrX:74480814-74480815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184719904	chrX:74480852-74480853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188048993	chrX:74481143-74481144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35896442	chrX:74481311-74481312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192621761	chrX:74481337-74481338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184243050	chrX:74481396-74481397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188425425	chrX:74481431-74481432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181906940	chrX:74481512-74481513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185112044	chrX:74481542-74481543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145928891	chrX:74481589-74481590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138782111	chrX:74481595-74481596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371015979	chrX:74481750-74481751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188901436	chrX:74481779-74481780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181766123	chrX:74481788-74481789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186392089	chrX:74481849-74481850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191083525	chrX:74481853-74481854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141848288	chrX:74481864-74481865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181530711	chrX:74481907-74481908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185038643	chrX:74481983-74481984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375493362	chrX:74482027-74482028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564216289	chrX:74482213-74482214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201158996	chrX:74482239-74482240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189898417	chrX:74482262-74482263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183069947	chrX:74482298-74482299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187795982	chrX:74482350-74482351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368069673	chrX:74482351-74482352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191695727	chrX:74482478-74482479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Premature ovarian failure	20952765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74466800-74467400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:74467000-74467400	Enhancers	HepG2	liver
3	chrX:74467000-74467600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chrX:74480600-74493600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chrX:74491800-74492000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chrX:74492000-74493000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chrX:74492600-74492800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chrX:74492600-74493000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chrX:74492800-74493000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chrX:74492800-74493200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chrX:74493000-74493200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chrX:74493000-74493200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chrX:74493000-74493200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chrX:74493000-74493200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chrX:74493000-74493200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chrX:74493000-74493200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chrX:74493000-74493200	Enhancers	Dnd41	blood
18	chrX:74493000-74493400	Enhancers	Primary B cells from peripheral blood	blood
19	chrX:74493000-74493400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chrX:74493000-74493400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chrX:74493200-74493400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chrX:74493200-74493400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chrX:74493200-74493400	Enhancers	Primary T cells from cord blood	blood
24	chrX:74493200-74493400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chrX:74493200-74493400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chrX:74493200-74493400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chrX:74493200-74493400	Enhancers	Adipose Nuclei	Adipose
28	chrX:74493200-74493400	Enhancers	Brain Substantia Nigra	brain
29	chrX:74493200-74493400	Enhancers	Duodenum Mucosa	Duodenum
30	chrX:74493200-74493400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chrX:74493200-74493400	Enhancers	Fetal Stomach	stomach
32	chrX:74493200-74493400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chrX:74493200-74493400	Enhancers	Hela-S3	cervix
34	chrX:74493200-74493400	Enhancers	NHEK	skin
35	chrX:74493200-74493400	Enhancers	Osteobl	bone
36	chrX:74493200-74493600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chrX:74493200-74493600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chrX:74493200-74493600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chrX:74493200-74493600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chrX:74493200-74493800	Flanking Active TSS	Dnd41	blood
41	chrX:74493200-74494800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chrX:74493200-74495000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chrX:74493200-74495000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chrX:74493200-74495000	Active TSS	Aorta	Aorta
45	chrX:74493200-74495000	Active TSS	Fetal Lung	lung
46	chrX:74493200-74495000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chrX:74493200-74495000	Active TSS	Stomach Smooth Muscle	stomach
48	chrX:74493200-74495200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chrX:74493200-74495200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chrX:74493200-74495200	Active TSS	Brain Anterior Caudate	brain

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