Variant report

Variant	nsv510837
Chromosome Location	chrX:78290996-78357205
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	BCLAF1	chrX:78337261-78337779	GM12878	blood:	n/a	n/a
2	CEBPB	chrX:78291676-78291770	K562	blood:	n/a	n/a
3	CTCF	chrX:78337421-78337752	Spleen_OC	spleen:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
4	CTCF	chrX:78351324-78351373	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chrX:78337500-78337650	HEEpiC	esophagus:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
6	CTCF	chrX:78337380-78337530	A549	lung:	n/a	n/a
7	CTCF	chrX:78337500-78337650	SAEC	small airway:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
8	CTCF	chrX:78337492-78337668	Kidney_OC	kidney:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
9	CTCF	chrX:78337400-78337550	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chrX:78337501-78337683	HepG2	liver:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
11	CTCF	chrX:78337560-78337710	HepG2	liver:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
12	CTCF	chrX:78337520-78337670	GM12871	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
13	CTCF	chrX:78337500-78337650	AG09319	gingival:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
14	CTCF	chrX:78337460-78337610	BE2_C	brain:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
15	CTCF	chrX:78337408-78337713	HUVEC	blood vessel:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
16	CTCF	chrX:78337540-78337690	GM12873	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
17	CTCF	chrX:78337500-78337650	HUVEC	blood vessel:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
18	CTCF	chrX:78337560-78337710	HPF	lung:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
19	CTCF	chrX:78337480-78337630	GM12878	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
20	CTCF	chrX:78337520-78337670	BE2_C	brain:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
21	CTCF	chrX:78337540-78337690	NHDF-neo	bronchial:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
22	CTCF	chrX:78337356-78337776	IMR90	lung:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
23	CTCF	chrX:78337469-78337680	SK-N-SH_RA	brain:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
24	CTCF	chrX:78337361-78338024	GM12878	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
25	CTCF	chrX:78337500-78337650	Hela-S3	cervix:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
26	CTCF	chrX:78322359-78322478	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chrX:78337901-78337929	LNCaP	prostate:	n/a	n/a
28	CTCF	chrX:78337494-78337717	ProgFib	skin:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
29	CTCF	chrX:78318082-78318164	GM10248	blood:	n/a	n/a
30	CTCF	chrX:78337500-78337650	GM12871	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
31	CTCF	chrX:78337457-78337702	GM10266	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
32	CTCF	chrX:78293904-78293978	GM10266	blood:	n/a	n/a
33	CTCF	chrX:78337500-78337650	GM12868	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
34	CTCF	chrX:78337520-78337670	HMF	breast:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
35	CTCF	chrX:78337540-78337690	HBMEC	blood vessel:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
36	CTCF	chrX:78337460-78337610	HCT-116	colon:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
37	CTCF	chrX:78337520-78337670	BJ	skin:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
38	CTCF	chrX:78337460-78337610	K562	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
39	CTCF	chrX:78337520-78337670	NB4	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
40	CTCF	chrX:78337520-78337670	GM06990	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
41	CTCF	chrX:78337500-78337650	AG04449	skin:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
42	CTCF	chrX:78337520-78337670	SK-N-SH_RA	brain:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
43	CTCF	chrX:78337480-78337630	HEEpiC	esophagus:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
44	CTCF	chrX:78337480-78337630	SK-N-SH_RA	brain:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
45	CTCF	chrX:78337460-78337610	HBMEC	blood vessel:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
46	CTCF	chrX:78313380-78313530	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chrX:78337460-78337610	GM12875	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
48	CTCF	chrX:78337480-78337630	AoAF	blood vessel:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
49	CTCF	chrX:78337460-78337610	GM12870	blood:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586
50	CTCF	chrX:78337449-78337716	Pancreas_OC	pancreas:	n/a	chrX:78337569-78337585 chrX:78337563-78337584 chrX:78337575-78337582 chrX:78337568-78337586

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:78094327..78097258-chrX:78335741..78337438,2	MCF-7	breast:
2	chrX:77810818..77811621-chrX:78337177..78337725,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RY10-2	chrX:78298975-78299066	l_3936_chrX:78287196-78312846_adrenal
2	lnc-P2RY10-2	chrX:78312666-78312846	l_3936_chrX:78287196-78312846_adrenal

Variant related genes	Relation type
ENSG00000232168	TF binding region

Extended variants
information (count: 517 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6619152	chrX:78291055-78291056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185834233	chrX:78291058-78291059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548781627	chrX:78291061-78291062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62606379	chrX:78291098-78291099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187537048	chrX:78291100-78291101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142156021	chrX:78291164-78291165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201894986	chrX:78291227-78291228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151231811	chrX:78291228-78291229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369461180	chrX:78291286-78291287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139183155	chrX:78291306-78291307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138242958	chrX:78291336-78291337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149883465	chrX:78291370-78291371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191170914	chrX:78291411-78291412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183669408	chrX:78291417-78291418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188391682	chrX:78291418-78291419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181215576	chrX:78291502-78291503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534313141	chrX:78291516-78291517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185126415	chrX:78291646-78291647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190368208	chrX:78291670-78291671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377148478	chrX:78291679-78291680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182006502	chrX:78291682-78291683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187260664	chrX:78291689-78291690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144866966	chrX:78291702-78291703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142072086	chrX:78291734-78291735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5912208	chrX:78291762-78291763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192006513	chrX:78291769-78291770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369343803	chrX:78291864-78291865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374572353	chrX:78291877-78291878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5959223	chrX:78291907-78291908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142565895	chrX:78291953-78291954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368898099	chrX:78291983-78291984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143333373	chrX:78292066-78292067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180692961	chrX:78292079-78292080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35862088	chrX:78292245-78292246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397895682	chrX:78292258-78292259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5912209	chrX:78292320-78292321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185317617	chrX:78292325-78292326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190225503	chrX:78292398-78292399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141551008	chrX:78292473-78292474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182824549	chrX:78292491-78292492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188322603	chrX:78292550-78292551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146655820	chrX:78312822-78312823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs181354500	chrX:78312826-78312827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs180947176	chrX:78315622-78315623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185564277	chrX:78315627-78315628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200043210	chrX:78315662-78315663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191216256	chrX:78315706-78315707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370657142	chrX:78315711-78315712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529804172	chrX:78315771-78315772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183479788	chrX:78315828-78315829	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:78289400-78292200	Enhancers	Primary T cells from cord blood	blood
2	chrX:78289400-78292600	Enhancers	Dnd41	blood
3	chrX:78289600-78292000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chrX:78289800-78291000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chrX:78289800-78291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chrX:78289800-78292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chrX:78290200-78291200	Weak transcription	Primary hematopoietic stem cells	blood
8	chrX:78290200-78291600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chrX:78290200-78291600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chrX:78290600-78291000	Enhancers	Primary B cells from cord blood	blood
11	chrX:78290600-78292600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chrX:78290800-78291400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chrX:78291000-78291200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chrX:78291000-78291400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chrX:78291000-78291400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:78291000-78291800	Weak transcription	Primary B cells from cord blood	blood
17	chrX:78291400-78291600	Enhancers	Primary hematopoietic stem cells	blood
18	chrX:78291400-78292000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chrX:78291400-78292200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chrX:78291400-78292400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chrX:78291400-78292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chrX:78291600-78292000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chrX:78291600-78292000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chrX:78291600-78292000	Enhancers	Fetal Thymus	thymus
25	chrX:78291600-78292400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chrX:78291800-78292000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chrX:78291800-78292200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chrX:78291800-78292200	Enhancers	Primary B cells from cord blood	blood
29	chrX:78291800-78292200	Enhancers	Primary T cells fromperipheralblood	blood
30	chrX:78291800-78292400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chrX:78292000-78292200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chrX:78315600-78316000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chrX:78321000-78321800	Enhancers	GM12878-XiMat	blood
34	chrX:78321000-78321800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chrX:78321000-78322000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chrX:78321000-78322600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chrX:78321000-78322600	Enhancers	Primary B cells from peripheral blood	blood
38	chrX:78321800-78324000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chrX:78322000-78324000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chrX:78322600-78323800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chrX:78323800-78325000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chrX:78324000-78325000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chrX:78324000-78325200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chrX:78333800-78334400	Active TSS	Primary T cells fromperipheralblood	blood
45	chrX:78334400-78343800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chrX:78334600-78339800	Enhancers	Dnd41	blood
47	chrX:78334800-78335000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chrX:78335000-78337000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chrX:78335400-78335800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chrX:78335400-78336200	Enhancers	HSMM	muscle

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