Variant report

Variant	nsv481890
Chromosome Location	chrX:32821365-32982766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:289)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chrX:32924311-32924335	GM12878	blood:	n/a	n/a
2	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
3	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
4	CEBPB	chrX:32898887-32899628	IMR90	lung:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
5	CEBPB	chrX:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
6	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
7	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
8	CEBPB	chrX:32831425-32831725	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
10	CEBPB	chrX:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
11	CEBPB	chrX:32831465-32831687	HepG2	liver:	n/a	n/a
12	CEBPB	chrX:32949269-32949597	IMR90	lung:	n/a	chrX:32949502-32949513 chrX:32949415-32949426 chrX:32949500-32949513 chrX:32949416-32949425
13	CEBPB	chrX:32949288-32949498	HepG2	liver:	n/a	chrX:32949415-32949426 chrX:32949416-32949425
14	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chrX:32936731-32936967	A549	lung:	n/a	n/a
16	CEBPB	chrX:32936661-32936954	IMR90	lung:	n/a	n/a
17	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
18	CHD2	chrX:32924317-32924414	K562	blood:	n/a	n/a
19	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
20	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
21	CTCF	chrX:32951401-32951458	GM20000	blood:	n/a	n/a
22	CTCF	chrX:32929230-32929280	GM10248	blood:	n/a	n/a
23	CTCF	chrX:32916760-32916910	BE2_C	brain:	n/a	n/a
24	CTCF	chrX:32955283-32955336	GM20000	blood:	n/a	n/a
25	CTCF	chrX:32959872-32959900	LNCaP	prostate:	n/a	n/a
26	CTCF	chrX:32890466-32890500	GM10248	blood:	n/a	n/a
27	CTCF	chrX:32910683-32910784	GM20000	blood:	n/a	n/a
28	CTCF	chrX:32830617-32830700	GM20000	blood:	n/a	n/a
29	CTCF	chrX:32928757-32928836	LNCaP	prostate:	n/a	n/a
30	CTCF	chrX:32834010-32834073	LNCaP	prostate:	n/a	n/a
31	CTCF	chrX:32831204-32831236	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chrX:32916760-32916910	HEK293	kidney:	n/a	n/a
33	CTCF	chrX:32943514-32943600	GM20000	blood:	n/a	n/a
34	CTCF	chrX:32960545-32960652	Fibrobl	skin:	n/a	n/a
35	CTCF	chrX:32872240-32872390	HEK293	kidney:	n/a	n/a
36	CTCF	chrX:32916843-32916924	MCF-7	breast:	n/a	n/a
37	CTCF	chrX:32836265-32836468	Medullo	brain:	n/a	n/a
38	CTCF	chrX:32958505-32958589	Medullo	brain:	n/a	n/a
39	CTCF	chrX:32931718-32931781	ProgFib	skin:	n/a	n/a
40	CTCF	chrX:32877264-32877301	Lung_OC	lung:	n/a	n/a
41	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
42	CTCF	chrX:32958897-32958975	LNCaP	prostate:	n/a	n/a
43	CTCF	chrX:32875890-32875982	LNCaP	prostate:	n/a	n/a
44	CTCF	chrX:32942373-32942449	LNCaP	prostate:	n/a	n/a
45	CTCF	chrX:32916782-32916982	GM12878	blood:	n/a	n/a
46	CTCF	chrX:32892010-32892119	GM20000	blood:	n/a	n/a
47	CTCF	chrX:32982183-32982248	GM10266	blood:	n/a	n/a
48	CTCF	chrX:32916844-32916890	MCF-7	breast:	n/a	n/a
49	CTCF	chrX:32823650-32823752	GM20000	blood:	n/a	n/a
50	CTCF	chrX:32852154-32852263	GM20000	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:32886526-32886576	HRE	kidney:	n/a
2	chrX:32886526-32886576	SK-N-SH	brain:	n/a
3	chrX:32886526-32886576	SK-N-SH_RA	brain:	n/a
4	chrX:32830005-32830055	GM12891	blood:	n/a
5	chrX:32886461-32886511	Caco-2	colon:	n/a
6	chrX:32830005-32830055	Hela-S3	cervix:	n/a
7	chrX:32886461-32886511	HPAEpiC	pulmonary alveolar:	n/a
8	chrX:32886461-32886511	SAEC	small airway:	n/a
9	chrX:32886461-32886511	SK-N-SH_RA	brain:	n/a
10	chrX:32886461-32886511	SK-N-MC	brain:	n/a
11	chrX:32886526-32886576	H1-hESC	embryonic stem cell:	embryo
12	chrX:32830005-32830055	AG04450	lung:	fetal
13	chrX:32830005-32830055	NHBE	bronchial:	n/a
14	chrX:32886526-32886576	GM06990	blood:	n/a
15	chrX:32830005-32830055	GM12892	blood:	n/a
16	chrX:32886461-32886511	HMEC	breast:	n/a
17	chrX:32830005-32830055	MCF10A-Er-Src	breast:	n/a
18	chrX:32886461-32886511	MCF-7	breast:	n/a
19	chrX:32886526-32886576	Hela-S3	cervix:	n/a
20	chrX:32830005-32830055	HIPEpiC	eye:	n/a
21	chrX:32886461-32886511	NB4	blood:	n/a
22	chrX:32886526-32886576	AG04449	skin:	fetal
23	chrX:32830005-32830055	A549	lung:	n/a
24	chrX:32830005-32830055	HUVEC	blood vessel:	n/a
25	chrX:32886526-32886576	AG04450	lung:	fetal
26	chrX:32886526-32886576	HCF	heart:	n/a
27	chrX:32830005-32830055	SK-N-SH_RA	brain:	n/a
28	chrX:32886526-32886576	HEK293	kidney:	embryo
29	chrX:32830005-32830055	AG04449	skin:	fetal
30	chrX:32886461-32886511	AG10803	skin:	n/a
31	chrX:32830005-32830055	HCT-116	colon:	n/a
32	chrX:32830005-32830055	Jurkat	blood:	n/a
33	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
34	chrX:32830005-32830055	NT2-D1	testis:	n/a
35	chrX:32886526-32886576	HCPEpiC	choroid plexus:	n/a
36	chrX:32886461-32886511	MCF10A-Er-Src	breast:	n/a
37	chrX:32886526-32886576	HRCEpiC	kidney:	n/a
38	chrX:32886526-32886576	HL-60	blood:	n/a
39	chrX:32886526-32886576	PrEC	prostate:	n/a
40	chrX:32830005-32830055	RPTEC	kidney:	n/a
41	chrX:32830005-32830055	PANC-1	pancreas:	n/a
42	chrX:32886461-32886511	IMR90	lung:	fetal
43	chrX:32830005-32830055	SAEC	small airway:	n/a
44	chrX:32886461-32886511	PANC-1	pancreas:	n/a
45	chrX:32830005-32830055	HL-60	blood:	n/a
46	chrX:32830005-32830055	ovcar-3	ovarian:	n/a
47	chrX:32886526-32886576	SAEC	small airway:	n/a
48	chrX:32830005-32830055	T-47D	breast:	n/a
49	chrX:32886526-32886576	HAEpiC	amniotic membrane:	n/a
50	chrX:32886526-32886576	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:145238372..145239192-chrX:32945954..32946528,2	MCF-7	breast:
2	chrX:32978971..32981642-chrX:32988787..32991251,2	K562	blood:

No data

Variant related genes	Relation type
DMD	TF binding region
ENSG00000238969	TF binding region
DMD	CpG island
ENSG00000238969	CpG island

Extended variants
information (count: 3110 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3110 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149217168	chrX:32821405-32821406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374344100	chrX:32821476-32821477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200554273	chrX:32821478-32821479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189457935	chrX:32821493-32821494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143407595	chrX:32821495-32821496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181805868	chrX:32821496-32821497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202213555	chrX:32821521-32821522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138952048	chrX:32821539-32821540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373415501	chrX:32821556-32821557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186140832	chrX:32821576-32821577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113895862	chrX:32821581-32821582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142109554	chrX:32821713-32821714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113673673	chrX:32821759-32821760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138272562	chrX:32821857-32821858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570675270	chrX:32821859-32821860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190833893	chrX:32821870-32821871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182638050	chrX:32821871-32821872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186347983	chrX:32821972-32821973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552179685	chrX:32821998-32821999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191398834	chrX:32822006-32822007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141897323	chrX:32822019-32822020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58514355	chrX:32822031-32822032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150613152	chrX:32822079-32822080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371612461	chrX:32822087-32822088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571190211	chrX:32822142-32822143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139722886	chrX:32822147-32822148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538108191	chrX:32822152-32822153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183163670	chrX:32822224-32822225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs149318982	chrX:32822229-32822230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187454865	chrX:32822235-32822236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs192052190	chrX:32822283-32822284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147440825	chrX:32822355-32822356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183455055	chrX:32822441-32822442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs139787085	chrX:32822469-32822470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369545928	chrX:32822496-32822497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2855700	chrX:32822595-32822596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188895860	chrX:32822680-32822681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192334203	chrX:32822786-32822787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556401887	chrX:32822866-32822867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184469585	chrX:32822884-32822885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147616893	chrX:32823005-32823006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189759777	chrX:32823161-32823162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376694595	chrX:32823166-32823167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191613810	chrX:32823237-32823238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142137802	chrX:32823337-32823338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs59169646	chrX:32823381-32823382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140127559	chrX:32823410-32823411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184430689	chrX:32823595-32823596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376642836	chrX:32823643-32823644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189022206	chrX:32823647-32823648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	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
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17406619	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Alcoholism	21790672	CNVD
Chronic granulomatous disease	22383943	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32808600-32832400	Weak transcription	Fetal Heart	heart
2	chrX:32817600-32842000	Weak transcription	HSMMtube	muscle
3	chrX:32818600-32823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chrX:32819200-32823800	Weak transcription	Right Ventricle	heart
5	chrX:32820800-32825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chrX:32821600-32823600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chrX:32821800-32822800	Weak transcription	Stomach Smooth Muscle	stomach
8	chrX:32822200-32822600	ZNF genes & repeats	Aorta	Aorta
9	chrX:32822200-32822800	ZNF genes & repeats	Fetal Stomach	stomach
10	chrX:32822400-32823400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chrX:32822600-32822800	ZNF genes & repeats	Left Ventricle	heart
12	chrX:32822800-32824200	Weak transcription	Left Ventricle	heart
13	chrX:32825200-32842200	Weak transcription	HSMM	muscle
14	chrX:32825800-32827000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chrX:32827000-32834200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:32832400-32832800	Enhancers	Fetal Heart	heart
17	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chrX:32832800-32842800	Weak transcription	Fetal Heart	heart
19	chrX:32836800-32837200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chrX:32837400-32837800	Enhancers	Stomach Smooth Muscle	stomach
21	chrX:32842000-32842200	Enhancers	HSMMtube	muscle
22	chrX:32842200-32842400	Weak transcription	HSMMtube	muscle
23	chrX:32842800-32843400	Enhancers	Fetal Heart	heart
24	chrX:32848600-32848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chrX:32853600-32853800	Enhancers	Fetal Heart	heart
27	chrX:32853800-32855200	Weak transcription	Fetal Heart	heart
28	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
29	chrX:32855200-32856200	Enhancers	Fetal Heart	heart
30	chrX:32857200-32857800	Enhancers	Primary hematopoietic stem cells	blood
31	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chrX:32859800-32862800	Weak transcription	Brain Angular Gyrus	brain
33	chrX:32859800-32869800	Weak transcription	Left Ventricle	heart
34	chrX:32860200-32860800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chrX:32860200-32860800	Enhancers	Right Atrium	heart
36	chrX:32860400-32862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chrX:32860800-32861600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chrX:32861600-32861800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chrX:32861800-32862800	Enhancers	Fetal Heart	heart
40	chrX:32861800-32865400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chrX:32862200-32863000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chrX:32862600-32863000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chrX:32862600-32863000	Active TSS	Brain Cingulate Gyrus	brain
44	chrX:32862600-32863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chrX:32862800-32863000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chrX:32862800-32863200	Active TSS	Ovary	ovary
47	chrX:32862800-32864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chrX:32862800-32868600	Weak transcription	Fetal Heart	heart
49	chrX:32863000-32863200	Active TSS	Brain Angular Gyrus	brain
50	chrX:32863000-32864600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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