Variant report

Variant	nsv491830
Chromosome Location	chrX:64263556-64525424
allele	n/a
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	ARID3A	chrX:64460959-64461631	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:64416252-64416374	HepG2	liver:	n/a	n/a
3	ARID3A	chrX:64415577-64415931	HepG2	liver:	n/a	n/a
4	ARID3A	chrX:64416696-64417137	HepG2	liver:	n/a	n/a
5	ARID3A	chrX:64313546-64313855	HepG2	liver:	n/a	n/a
6	ARID3A	chrX:64414475-64414787	HepG2	liver:	n/a	n/a
7	ATF2	chrX:64520272-64520693	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chrX:64416839-64417155	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chrX:64416852-64417205	HepG2	liver:	n/a	n/a
10	CEBPB	chrX:64313557-64313919	HepG2	liver:	n/a	chrX:64313747-64313758
11	CEBPB	chrX:64460992-64462135	HepG2	liver:	n/a	n/a
12	CEBPB	chrX:64461880-64461987	A549	lung:	n/a	n/a
13	CEBPB	chrX:64433916-64434183	K562	blood:	n/a	n/a
14	CEBPB	chrX:64491299-64491461	H1-hESC	embryonic stem cell:	n/a	chrX:64491358-64491369
15	CEBPB	chrX:64313588-64313868	HepG2	liver:	n/a	chrX:64313747-64313758
16	CEBPB	chrX:64383864-64384064	HepG2	liver:	n/a	n/a
17	CEBPB	chrX:64459120-64459415	HepG2	liver:	n/a	chrX:64459263-64459274
18	CEBPB	chrX:64416977-64417229	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chrX:64523684-64523978	HepG2	liver:	n/a	chrX:64523739-64523750
20	CEBPB	chrX:64523837-64524062	IMR90	lung:	n/a	n/a
21	CEBPB	chrX:64459246-64459344	IMR90	lung:	n/a	chrX:64459263-64459274
22	CEBPB	chrX:64313652-64313841	HepG2	liver:	n/a	chrX:64313747-64313758
23	CEBPB	chrX:64424947-64425160	IMR90	lung:	n/a	n/a
24	CEBPD	chrX:64460934-64461157	HepG2	liver:	n/a	n/a
25	CHD2	chrX:64416878-64417156	HepG2	liver:	n/a	chrX:64417139-64417146 chrX:64417013-64417020
26	CHD2	chrX:64416836-64417145	H1-hESC	embryonic stem cell:	n/a	chrX:64417013-64417020
27	CHD2	chrX:64318802-64318980	HepG2	liver:	n/a	n/a
28	CREB1	chrX:64416951-64417138	A549	lung:	n/a	n/a
29	CTCF	chrX:64416980-64417130	HepG2	liver:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
30	CTCF	chrX:64517608-64517685	LNCaP	prostate:	n/a	n/a
31	CTCF	chrX:64435142-64435163	GM10248	blood:	n/a	n/a
32	CTCF	chrX:64332982-64333032	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chrX:64416919-64417137	HepG2	liver:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
34	CTCF	chrX:64454377-64454483	GM10248	blood:	n/a	n/a
35	CTCF	chrX:64416980-64417130	HEEpiC	esophagus:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
36	CTCF	chrX:64417026-64417111	Fibrobl	skin:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
37	CTCF	chrX:64343831-64343944	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chrX:64289657-64289713	Medullo	brain:	n/a	n/a
39	CTCF	chrX:64416970-64417142	T-47D	breast:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
40	CTCF	chrX:64293064-64293136	GM19239	blood:	n/a	n/a
41	CTCF	chrX:64520454-64520706	HepG2	liver:	n/a	n/a
42	CTCF	chrX:64445382-64445491	LNCaP	prostate:	n/a	n/a
43	CTCF	chrX:64409687-64409728	LNCaP	prostate:	n/a	n/a
44	CTCF	chrX:64494058-64494176	GM10266	blood:	n/a	n/a
45	CTCF	chrX:64416960-64417110	HBMEC	blood vessel:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
46	CTCF	chrX:64323161-64323221	GM10266	blood:	n/a	n/a
47	CTCF	chrX:64416852-64417219	H1-hESC	embryonic stem cell:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
48	CTCF	chrX:64417020-64417170	A549	lung:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
49	CTCF	chrX:64416970-64417197	MCF-7	breast:	n/a	chrX:64417080-64417093 chrX:64417077-64417090
50	CTCF	chrX:64347300-64347450	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:63149790..63150339-chrX:64416655..64417486,2	MCF-7	breast:
2	chrX:64254063..64256043-chrX:64262099..64265105,3	K562	blood:
3	chrX:64257340..64260132-chrX:64261723..64264244,2	K562	blood:
4	chrX:64114357..64115134-chrX:64416597..64417121,2	MCF-7	breast:
5	chrX:64254509..64258840-chrX:64260564..64264244,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H12B-3	chrX:64271342-64272117	XLOC_007999
2	lnc-ZC3H12B-2	chrX:64295361-64295550	XLOC_008000
3	lnc-ZC3H12B-2	chrX:64295733-64295792	XLOC_008000
4	lnc-ZC3H12B-2	chrX:64311000-64311672	XLOC_008000
5	lnc-ZC4H2-1	chrX:64406389-64406425	NONHSAT137330
6	lnc-ZC4H2-1	chrX:64407010-64407145	NONHSAT137330
7	lnc-ZC3H12B-8	chrX:64490793-64491321	NONHSAT137332
8	lnc-ZC3H12B-8	chrX:64491555-64491807	NONHSAT137332
9	lnc-ZC3H12B-2	chrX:64333544-64333726	XLOC_008000
10	lnc-ZC4H2-1	chrX:64404898-64406086	NONHSAT137330
11	lnc-ZC3H12B-8	chrX:64492134-64492899	NONHSAT137332
12	lnc-ZC3H12B-2	chrX:64295724-64295792	XLOC_008000

Variant related genes	Relation type
CCT4P2	TF binding region
ENSG00000237971	TF binding region
ENSG00000222596	TF binding region
ENSG00000126970	chromatin interactions
UBN2	miRNA target sites
UBL3	miRNA target sites

Extended variants
information (count: 1804 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1804 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188433056	chrX:64263600-64263601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191658914	chrX:64263829-64263830	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141386409	chrX:64263830-64263831	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145163072	chrX:64263955-64263956	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371517650	chrX:64264056-64264057	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375896382	chrX:64264161-64264162	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138512852	chrX:64264174-64264175	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35872529	chrX:64264175-64264176	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182369202	chrX:64264295-64264296	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187399198	chrX:64264410-64264411	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191933148	chrX:64264416-64264417	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113374146	chrX:64264429-64264430	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185774493	chrX:64264454-64264455	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140241550	chrX:64264495-64264496	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533570925	chrX:64264514-64264515	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190297366	chrX:64264594-64264595	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574973903	chrX:64264664-64264665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542492193	chrX:64264702-64264703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192781892	chrX:64264736-64264737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184308442	chrX:64264843-64264844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188107537	chrX:64264926-64264927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181310453	chrX:64264986-64264987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185572637	chrX:64265165-64265166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552051127	chrX:64265256-64265257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189158724	chrX:64265274-64265275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150305441	chrX:64265318-64265319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181539053	chrX:64265342-64265343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368819991	chrX:64265457-64265458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137971145	chrX:64265516-64265517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149496125	chrX:64265735-64265736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs187628469	chrX:64265851-64265852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143126191	chrX:64265863-64265864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560647825	chrX:64265899-64265900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191940977	chrX:64265985-64265986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370356225	chrX:64265997-64265998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183027524	chrX:64266128-64266129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73213315	chrX:64266132-64266133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116160076	chrX:64266149-64266150	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7067056	chrX:64266285-64266286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs189546829	chrX:64266291-64266292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182571930	chrX:64266679-64266680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186901816	chrX:64266752-64266753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113484461	chrX:64266893-64266894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5964409	chrX:64266910-64266911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112712186	chrX:64266929-64266930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111963101	chrX:64266936-64266937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147435611	chrX:64267262-64267263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192212441	chrX:64267567-64267568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183360719	chrX:64267603-64267604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371939289	chrX:64267640-64267641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Wilms tumour	17204608	CNVD
craniofacial dysmorphism	21918468	CNVD
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
turner syndrome	20570968	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64257400-64280000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chrX:64259200-64263800	Weak transcription	Dnd41	blood
3	chrX:64263800-64264600	ZNF genes & repeats	Dnd41	blood
4	chrX:64265600-64266400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chrX:64265800-64266000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chrX:64265800-64266400	ZNF genes & repeats	Liver	Liver
7	chrX:64266000-64266400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chrX:64266400-64269400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chrX:64269400-64269800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chrX:64269800-64298600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chrX:64270000-64285800	Weak transcription	Dnd41	blood
12	chrX:64271800-64272200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chrX:64272200-64273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chrX:64272400-64273200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chrX:64273000-64276200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:64274000-64274200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:64275400-64277800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chrX:64277600-64286600	Weak transcription	Thymus	Thymus
19	chrX:64277800-64278400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chrX:64277800-64278600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:64277800-64278800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chrX:64278000-64278400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chrX:64278200-64279000	ZNF genes & repeats	Aorta	Aorta
24	chrX:64278200-64279000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chrX:64278400-64278600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chrX:64278400-64296400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chrX:64278600-64278800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chrX:64278600-64280000	Weak transcription	Primary hematopoietic stem cells	blood
29	chrX:64278800-64295200	Weak transcription	Duodenum Mucosa	Duodenum
30	chrX:64278800-64295200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chrX:64279000-64286200	Weak transcription	Fetal Intestine Small	intestine
32	chrX:64279000-64286800	Weak transcription	Aorta	Aorta
33	chrX:64279200-64293600	Weak transcription	Ovary	ovary
34	chrX:64279400-64281000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chrX:64279800-64298000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chrX:64280000-64280200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chrX:64280000-64281000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chrX:64280200-64293800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chrX:64280400-64299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chrX:64280600-64281600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chrX:64280800-64292600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chrX:64281000-64281400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chrX:64281000-64293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chrX:64281200-64281400	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chrX:64281200-64281600	ZNF genes & repeats	Fetal Lung	lung
46	chrX:64281400-64286800	Weak transcription	Fetal Intestine Large	intestine
47	chrX:64281400-64289000	Weak transcription	Primary hematopoietic stem cells	blood
48	chrX:64282400-64291200	Weak transcription	Primary T cells from cord blood	blood
49	chrX:64282600-64283200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chrX:64283200-64286400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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