Variant report

Variant	nsv481918
Chromosome Location	chrX:32759466-32853492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrX:32772797-32772997	A549	lung:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906
2	CEBPB	chrX:32772748-32773051	HepG2	liver:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906 chrX:32773000-32773017
3	CEBPB	chrX:32831425-32831725	IMR90	lung:	n/a	n/a
4	CEBPB	chrX:32766919-32767531	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
6	CEBPB	chrX:32772781-32773048	IMR90	lung:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906 chrX:32773000-32773017
7	CEBPB	chrX:32831465-32831687	HepG2	liver:	n/a	n/a
8	CTCF	chrX:32792620-32792770	SAEC	small airway:	n/a	n/a
9	CTCF	chrX:32797226-32797328	LNCaP	prostate:	n/a	n/a
10	CTCF	chrX:32770543-32770629	GM10266	blood:	n/a	n/a
11	CTCF	chrX:32797197-32797411	LNCaP	prostate:	n/a	chrX:32797392-32797400
12	CTCF	chrX:32768823-32769008	GM20000	blood:	n/a	n/a
13	CTCF	chrX:32778746-32778761	GM10248	blood:	n/a	n/a
14	CTCF	chrX:32830617-32830700	GM20000	blood:	n/a	n/a
15	CTCF	chrX:32760464-32760509	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chrX:32792600-32792750	BE2_C	brain:	n/a	n/a
17	CTCF	chrX:32797236-32797397	Medullo	brain:	n/a	n/a
18	CTCF	chrX:32797150-32797429	GM12878	blood:	n/a	chrX:32797392-32797400
19	CTCF	chrX:32842378-32842473	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chrX:32792641-32792723	LNCaP	prostate:	n/a	n/a
21	CTCF	chrX:32839079-32839102	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chrX:32792660-32792810	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chrX:32834010-32834073	LNCaP	prostate:	n/a	n/a
24	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
25	CTCF	chrX:32792620-32792770	HEK293	kidney:	n/a	n/a
26	CTCF	chrX:32797220-32797370	HMEC	breast:	n/a	n/a
27	CTCF	chrX:32771076-32771134	GM10248	blood:	n/a	n/a
28	CTCF	chrX:32780790-32780863	GM20000	blood:	n/a	n/a
29	CTCF	chrX:32838926-32839006	GM20000	blood:	n/a	n/a
30	CTCF	chrX:32775575-32775630	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chrX:32786375-32786459	GM20000	blood:	n/a	n/a
32	CTCF	chrX:32823650-32823752	GM20000	blood:	n/a	n/a
33	CTCF	chrX:32797253-32797345	IMR90	lung:	n/a	n/a
34	CTCF	chrX:32818692-32818774	GM20000	blood:	n/a	n/a
35	CTCF	chrX:32769516-32769564	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chrX:32797240-32797312	Hela-S3	cervix:	n/a	n/a
37	CTCF	chrX:32822791-32822834	MCF-7	breast:	n/a	n/a
38	CTCF	chrX:32792671-32792700	GM12878	blood:	n/a	n/a
39	CTCF	chrX:32792685-32792697	NHEK	skin:	n/a	n/a
40	CTCF	chrX:32794104-32794151	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chrX:32792620-32792770	BE2_C	brain:	n/a	n/a
42	CTCF	chrX:32831104-32831171	GM10266	blood:	n/a	n/a
43	CTCF	chrX:32792620-32792770	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chrX:32831204-32831236	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chrX:32792650-32792769	Medullo	brain:	n/a	n/a
46	CTCF	chrX:32759672-32759724	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chrX:32836265-32836468	Medullo	brain:	n/a	n/a
48	CTCF	chrX:32792704-32792717	HepG2	liver:	n/a	n/a
49	CTCF	chrX:32852154-32852263	GM20000	blood:	n/a	n/a
50	CTCF	chrX:32836220-32836370	HMEC	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:32830005-32830055	NT2-D1	testis:	n/a
2	chrX:32830005-32830055	Caco-2	colon:	n/a
3	chrX:32830005-32830055	AoSMC	blood vessel:	n/a
4	chrX:32830005-32830055	SKMC	muscle:	n/a
5	chrX:32830005-32830055	HL-60	blood:	n/a
6	chrX:32830005-32830055	HNPCEpiC	eye:	n/a
7	chrX:32830005-32830055	BE2_C	brain:	n/a
8	chrX:32830005-32830055	Hepatocyte	liver:	n/a
9	chrX:32830005-32830055	AG10803	skin:	n/a
10	chrX:32830005-32830055	PANC-1	pancreas:	n/a
11	chrX:32830005-32830055	HCT-116	colon:	n/a
12	chrX:32830005-32830055	K562	blood:	n/a
13	chrX:32830005-32830055	GM06990	blood:	n/a
14	chrX:32830005-32830055	Jurkat	blood:	n/a
15	chrX:32830005-32830055	BJ	skin:	n/a
16	chrX:32830005-32830055	HCM	heart:	n/a
17	chrX:32830005-32830055	HRPEpiC	eye:	n/a
18	chrX:32830005-32830055	ProgFib	skin:	n/a
19	chrX:32830005-32830055	ECC-1	luminal epithelium:	n/a
20	chrX:32830005-32830055	HRCEpiC	kidney:	n/a
21	chrX:32830005-32830055	A549	lung:	n/a
22	chrX:32830005-32830055	SK-N-MC	brain:	n/a
23	chrX:32830005-32830055	NB4	blood:	n/a
24	chrX:32830005-32830055	HMEC	breast:	n/a
25	chrX:32830005-32830055	RPTEC	kidney:	n/a
26	chrX:32830005-32830055	HUVEC	blood vessel:	n/a
27	chrX:32830005-32830055	H1-hESC	embryonic stem cell:	embryo
28	chrX:32830005-32830055	MCF-7	breast:	n/a
29	chrX:32830005-32830055	HEEpiC	esophagus:	n/a
30	chrX:32830005-32830055	U87	brain:	n/a
31	chrX:32830005-32830055	GM19239	blood:	n/a
32	chrX:32830005-32830055	HCPEpiC	choroid plexus:	n/a
33	chrX:32830005-32830055	HEK293	kidney:	embryo
34	chrX:32830005-32830055	AG04449	skin:	fetal
35	chrX:32830005-32830055	GM12892	blood:	n/a
36	chrX:32830005-32830055	NHDF-neo	bronchial:	n/a
37	chrX:32830005-32830055	NHBE	bronchial:	n/a
38	chrX:32830005-32830055	SAEC	small airway:	n/a
39	chrX:32830005-32830055	NH-A	brain:	n/a
40	chrX:32830005-32830055	T-47D	breast:	n/a
41	chrX:32830005-32830055	LNCaP	prostate:	n/a
42	chrX:32830005-32830055	HPAEpiC	pulmonary alveolar:	n/a
43	chrX:32830005-32830055	CMK	blood:	n/a
44	chrX:32830005-32830055	AG09319	gingival:	n/a
45	chrX:32830005-32830055	SK-N-SH	brain:	n/a
46	chrX:32830005-32830055	HAEpiC	amniotic membrane:	n/a
47	chrX:32830005-32830055	HepG2	liver:	n/a
48	chrX:32830005-32830055	AG09309	skin:	n/a
49	chrX:32830005-32830055	MCF10A-Er-Src	breast:	n/a
50	chrX:32830005-32830055	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:32796881..32797760-chrX:33354782..33355607,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GK-5	chrX:32774275-32774517	ENSG00000236828.1
2	lnc-GK-5	chrX:32773057-32773106	ENSG00000236828.1

No data

Variant related genes	Relation type
DMD	TF binding region
DMD-AS3	TF binding region
DMD	CpG island
DMD-AS3	CpG island

Extended variants
information (count: 1658 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1658 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12010151	chrX:32759470-32759471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190672244	chrX:32759496-32759497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182192393	chrX:32759497-32759498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187311335	chrX:32759543-32759544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190219340	chrX:32759558-32759559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555242970	chrX:32759584-32759585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145986084	chrX:32759587-32759588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138682468	chrX:32759630-32759631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115537308	chrX:32759635-32759636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112798265	chrX:32759782-32759783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558654109	chrX:32759801-32759802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374466476	chrX:32759916-32759917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144519876	chrX:32759997-32759998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183204416	chrX:32759998-32759999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148397405	chrX:32760003-32760004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188195597	chrX:32760045-32760046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368709251	chrX:32760062-32760063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370686734	chrX:32760091-32760092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560750307	chrX:32760092-32760093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193267327	chrX:32760107-32760108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142528688	chrX:32760108-32760109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150513921	chrX:32760111-32760112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140139051	chrX:32760166-32760167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145671393	chrX:32760206-32760207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367987366	chrX:32760288-32760289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185435476	chrX:32760333-32760334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544865879	chrX:32760362-32760363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147716660	chrX:32760398-32760399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371305448	chrX:32760418-32760419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371851342	chrX:32760474-32760475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563247796	chrX:32760477-32760478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376132513	chrX:32760479-32760480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142583931	chrX:32760526-32760527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149792100	chrX:32760531-32760532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188957773	chrX:32760641-32760642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3795201	chrX:32760656-32760657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560774831	chrX:32760739-32760740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191406562	chrX:32760751-32760752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183592354	chrX:32760785-32760786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188728585	chrX:32760837-32760838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181036781	chrX:32760911-32760912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185316418	chrX:32760932-32760933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189860087	chrX:32760986-32760987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182478313	chrX:32761029-32761030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187323419	chrX:32761043-32761044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190982270	chrX:32761047-32761048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148958390	chrX:32761080-32761081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368228074	chrX:32761128-32761129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143639388	chrX:32761214-32761215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61003747	chrX:32761223-32761224	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32757200-32760200	Weak transcription	Fetal Heart	heart
2	chrX:32757400-32763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chrX:32760200-32760400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chrX:32760200-32760600	Enhancers	Fetal Heart	heart
5	chrX:32760400-32762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chrX:32760600-32762400	Weak transcription	Fetal Heart	heart
7	chrX:32760600-32768800	Weak transcription	Left Ventricle	heart
8	chrX:32762400-32764800	Enhancers	Fetal Heart	heart
9	chrX:32762800-32763800	Enhancers	Muscle Satellite Cultured Cells	--
10	chrX:32763200-32764400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chrX:32764800-32766800	Weak transcription	Fetal Heart	heart
12	chrX:32766800-32769000	Enhancers	Fetal Heart	heart
13	chrX:32767200-32768000	Enhancers	HUVEC	blood vessel
14	chrX:32769000-32769200	Enhancers	Left Ventricle	heart
15	chrX:32769000-32770600	Weak transcription	Fetal Heart	heart
16	chrX:32770600-32770800	Enhancers	Fetal Heart	heart
17	chrX:32788200-32788600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chrX:32792800-32793600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chrX:32793400-32793800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chrX:32793800-32795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chrX:32794800-32795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chrX:32795000-32797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chrX:32795600-32797000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chrX:32795600-32797000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chrX:32795600-32797200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chrX:32795800-32797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chrX:32796000-32796400	Enhancers	H1 Cell Line	embryonic stem cell
28	chrX:32797400-32804400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chrX:32804200-32804400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chrX:32804400-32805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chrX:32804400-32805400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chrX:32804800-32805600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chrX:32805200-32805400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chrX:32807000-32807800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chrX:32807000-32808000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chrX:32807200-32807600	Enhancers	Brain Angular Gyrus	brain
37	chrX:32807200-32807600	Enhancers	Fetal Heart	heart
38	chrX:32807200-32807600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chrX:32807200-32809600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chrX:32807600-32808000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chrX:32807600-32808400	Weak transcription	Fetal Heart	heart
42	chrX:32808000-32809600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chrX:32808400-32808600	Enhancers	Fetal Heart	heart
44	chrX:32808600-32808800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chrX:32808600-32809600	Enhancers	Left Ventricle	heart
46	chrX:32808600-32832400	Weak transcription	Fetal Heart	heart
47	chrX:32808800-32809000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chrX:32808800-32809400	Enhancers	Right Ventricle	heart
49	chrX:32809600-32809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chrX:32816000-32817000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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