Variant report

Variant	nsv481892
Chromosome Location	chrX:32865351-33051424
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	ATF1	chrX:32999573-32999712	K562	blood:	n/a	n/a
2	BRCA1	chrX:32924311-32924335	GM12878	blood:	n/a	n/a
3	CEBPB	chrX:33016964-33017159	K562	blood:	n/a	n/a
4	CEBPB	chrX:33016954-33017272	HepG2	liver:	n/a	n/a
5	CEBPB	chrX:32898887-32899628	IMR90	lung:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
6	CEBPB	chrX:33006711-33006813	HepG2	liver:	n/a	chrX:33006751-33006764 chrX:33006751-33006762 chrX:33006753-33006764
7	CEBPB	chrX:33031625-33031897	HepG2	liver:	n/a	chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031738-33031749 chrX:33031738-33031751 chrX:33031740-33031749
8	CEBPB	chrX:32936661-32936954	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
10	CEBPB	chrX:33016950-33017279	A549	lung:	n/a	n/a
11	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
12	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
13	CEBPB	chrX:32949288-32949498	HepG2	liver:	n/a	chrX:32949415-32949426 chrX:32949416-32949425
14	CEBPB	chrX:32949269-32949597	IMR90	lung:	n/a	chrX:32949502-32949513 chrX:32949415-32949426 chrX:32949500-32949513 chrX:32949416-32949425
15	CEBPB	chrX:33031569-33031923	IMR90	lung:	n/a	chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031738-33031749 chrX:33031738-33031751 chrX:33031740-33031749
16	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
17	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
18	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
19	CEBPB	chrX:33016967-33017219	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chrX:33016930-33017250	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chrX:33016910-33017278	IMR90	lung:	n/a	n/a
22	CEBPB	chrX:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
23	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chrX:33031577-33031810	K562	blood:	n/a	chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031738-33031749 chrX:33031738-33031751 chrX:33031740-33031749
25	CEBPB	chrX:32936731-32936967	A549	lung:	n/a	n/a
26	CEBPB	chrX:33031602-33031889	A549	lung:	n/a	chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031740-33031749 chrX:33031738-33031749 chrX:33031738-33031751 chrX:33031740-33031749
27	CHD2	chrX:32924317-32924414	K562	blood:	n/a	n/a
28	CTBP2	chrX:33005235-33005635	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chrX:32960545-32960652	Fibrobl	skin:	n/a	n/a
30	CTCF	chrX:32916782-32916982	GM12878	blood:	n/a	n/a
31	CTCF	chrX:33031535-33031619	GM20000	blood:	n/a	n/a
32	CTCF	chrX:32942373-32942449	LNCaP	prostate:	n/a	n/a
33	CTCF	chrX:32929230-32929280	GM10248	blood:	n/a	n/a
34	CTCF	chrX:33037220-33037344	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chrX:32936516-32936584	ProgFib	skin:	n/a	n/a
36	CTCF	chrX:32959872-32959900	LNCaP	prostate:	n/a	n/a
37	CTCF	chrX:33039067-33039162	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chrX:33037180-33037330	HMEC	breast:	n/a	n/a
39	CTCF	chrX:32982183-32982248	GM10266	blood:	n/a	n/a
40	CTCF	chrX:32928757-32928836	LNCaP	prostate:	n/a	n/a
41	CTCF	chrX:32910683-32910784	GM20000	blood:	n/a	n/a
42	CTCF	chrX:32940721-32940856	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chrX:32886740-32886890	HepG2	liver:	n/a	n/a
44	CTCF	chrX:32912879-32912962	GM20000	blood:	n/a	n/a
45	CTCF	chrX:32976955-32977029	GM10248	blood:	n/a	n/a
46	CTCF	chrX:32955283-32955336	GM20000	blood:	n/a	n/a
47	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
48	CTCF	chrX:32943514-32943600	GM20000	blood:	n/a	n/a
49	CTCF	chrX:32958897-32958975	LNCaP	prostate:	n/a	n/a
50	CTCF	chrX:32892010-32892119	GM20000	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:33038967-33039017	PrEC	prostate:	n/a
2	chrX:33038967-33039017	GM19239	blood:	n/a
3	chrX:33038967-33039017	AoSMC	blood vessel:	n/a
4	chrX:33038967-33039017	HCPEpiC	choroid plexus:	n/a
5	chrX:33038967-33039017	SK-N-SH_RA	brain:	n/a
6	chrX:32886526-32886576	ProgFib	skin:	n/a
7	chrX:33038967-33039017	CMK	blood:	n/a
8	chrX:32886461-32886511	A549	lung:	n/a
9	chrX:32886461-32886511	LNCaP	prostate:	n/a
10	chrX:32886461-32886511	T-47D	breast:	n/a
11	chrX:33038967-33039017	H1-hESC	embryonic stem cell:	embryo
12	chrX:32886526-32886576	T-47D	breast:	n/a
13	chrX:33038967-33039017	HUVEC	blood vessel:	n/a
14	chrX:32886461-32886511	HCM	heart:	n/a
15	chrX:33038967-33039017	HRPEpiC	eye:	n/a
16	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
17	chrX:32886461-32886511	HMEC	breast:	n/a
18	chrX:32886526-32886576	SK-N-SH	brain:	n/a
19	chrX:32886526-32886576	HCM	heart:	n/a
20	chrX:33038967-33039017	GM06990	blood:	n/a
21	chrX:32886526-32886576	SAEC	small airway:	n/a
22	chrX:32886526-32886576	GM19239	blood:	n/a
23	chrX:32886526-32886576	HMEC	breast:	n/a
24	chrX:32886461-32886511	K562	blood:	n/a
25	chrX:33038967-33039017	ECC-1	luminal epithelium:	n/a
26	chrX:32886461-32886511	HIPEpiC	eye:	n/a
27	chrX:32886461-32886511	ovcar-3	ovarian:	n/a
28	chrX:32886526-32886576	HPAEpiC	pulmonary alveolar:	n/a
29	chrX:32886461-32886511	AoSMC	blood vessel:	n/a
30	chrX:32886526-32886576	CMK	blood:	n/a
31	chrX:32886526-32886576	AG04450	lung:	fetal
32	chrX:32886461-32886511	HRCEpiC	kidney:	n/a
33	chrX:32886461-32886511	HEEpiC	esophagus:	n/a
34	chrX:32886461-32886511	NB4	blood:	n/a
35	chrX:33038967-33039017	SK-N-MC	brain:	n/a
36	chrX:32886526-32886576	GM12878	blood:	n/a
37	chrX:33038967-33039017	RPTEC	kidney:	n/a
38	chrX:33038967-33039017	HPAEpiC	pulmonary alveolar:	n/a
39	chrX:32886526-32886576	AoSMC	blood vessel:	n/a
40	chrX:32886461-32886511	SAEC	small airway:	n/a
41	chrX:32886461-32886511	U87	brain:	n/a
42	chrX:33038967-33039017	GM12892	blood:	n/a
43	chrX:32886526-32886576	HRCEpiC	kidney:	n/a
44	chrX:33038967-33039017	Caco-2	colon:	n/a
45	chrX:33038967-33039017	AG09309	skin:	n/a
46	chrX:32886461-32886511	PANC-1	pancreas:	n/a
47	chrX:33038967-33039017	GM12891	blood:	n/a
48	chrX:32886526-32886576	HCF	heart:	n/a
49	chrX:32886461-32886511	GM19239	blood:	n/a
50	chrX:32886461-32886511	GM12878	blood:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM47A-3	chrX:33038303-33038317	NONHSAT136601

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

Extended variants
information (count: 3099 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3099 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10218021	chrX:32865367-32865368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73219728	chrX:32865504-32865505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189724860	chrX:32865536-32865537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377592325	chrX:32865562-32865563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182198127	chrX:32865584-32865585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5972694	chrX:32865791-32865792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370253602	chrX:32865795-32865796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372120992	chrX:32865903-32865904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28582200	chrX:32866002-32866003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186517402	chrX:32866036-32866037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5971665	chrX:32866065-32866066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs16990716	chrX:32866162-32866163	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530085471	chrX:32866203-32866204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191372783	chrX:32866208-32866209	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370130942	chrX:32866249-32866250	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112357411	chrX:32866317-32866318	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183561536	chrX:32866335-32866336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188756164	chrX:32866448-32866449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12011762	chrX:32866494-32866495	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs137917885	chrX:32866552-32866553	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs142490054	chrX:32866626-32866627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs145932589	chrX:32866685-32866686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192010354	chrX:32866698-32866699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11396365	chrX:32866731-32866732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397733082	chrX:32866732-32866733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201932145	chrX:32866761-32866762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113690693	chrX:32866765-32866766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111843070	chrX:32866770-32866771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560254161	chrX:32866835-32866836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1321397	chrX:32866880-32866881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553293360	chrX:32866954-32866955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183396240	chrX:32867008-32867009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552567883	chrX:32867088-32867089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187684172	chrX:32867126-32867127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564999073	chrX:32867147-32867148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191597738	chrX:32867159-32867160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184431850	chrX:32867221-32867222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142002844	chrX:32867266-32867267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188116387	chrX:32867360-32867361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376423627	chrX:32867568-32867569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192867064	chrX:32867579-32867580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs989355	chrX:32867602-32867603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184631856	chrX:32867674-32867675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368275580	chrX:32867701-32867702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578157250	chrX:32867707-32867708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72470531	chrX:32867810-32867811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs128626233	chrX:32867853-32867854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398123864	chrX:32867869-32867870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs128626231	chrX:32867870-32867871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147548697	chrX:32867886-32867887	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:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
2	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chrX:32859800-32869800	Weak transcription	Left Ventricle	heart
4	chrX:32861800-32865400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chrX:32862800-32868600	Weak transcription	Fetal Heart	heart
6	chrX:32864200-32866000	Weak transcription	HMEC	breast
7	chrX:32865600-32865800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chrX:32866000-32866200	Enhancers	HMEC	breast
9	chrX:32869000-32869200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chrX:32869200-32869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chrX:32869600-32871000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chrX:32869800-32870600	Enhancers	Left Ventricle	heart
13	chrX:32869800-32870800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chrX:32870200-32870800	Enhancers	Right Ventricle	heart
15	chrX:32870600-32890000	Weak transcription	Left Ventricle	heart
16	chrX:32870800-32871200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chrX:32871400-32871600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chrX:32881200-32881400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chrX:32881400-32886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chrX:32883600-32884400	Enhancers	HSMMtube	muscle
21	chrX:32884000-32884200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chrX:32884200-32884400	Enhancers	Psoas Muscle	Psoas
23	chrX:32884400-32886200	Weak transcription	HSMMtube	muscle
24	chrX:32884400-32892000	Weak transcription	Psoas Muscle	Psoas
25	chrX:32886000-32887400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chrX:32886000-32887600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chrX:32886200-32887000	Enhancers	HSMMtube	muscle
28	chrX:32886400-32886600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chrX:32886600-32886800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chrX:32886600-32887000	Enhancers	Right Ventricle	heart
31	chrX:32886600-32887200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chrX:32887000-32889200	Weak transcription	HSMMtube	muscle
33	chrX:32887200-32888800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chrX:32887400-32889800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chrX:32888400-32889200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chrX:32888800-32890400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chrX:32889200-32889400	Enhancers	Muscle Satellite Cultured Cells	--
38	chrX:32889200-32890000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chrX:32889200-32890000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chrX:32889200-32890600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chrX:32889200-32890600	Enhancers	HSMMtube	muscle
42	chrX:32889200-32892600	Enhancers	HMEC	breast
43	chrX:32889400-32889600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chrX:32889400-32889600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chrX:32889600-32889800	Enhancers	NHEK	skin
46	chrX:32889600-32890000	Active TSS	Muscle Satellite Cultured Cells	--
47	chrX:32889600-32890000	Enhancers	Brain Hippocampus Middle	brain
48	chrX:32889600-32890000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chrX:32889800-32890200	Enhancers	Brain Substantia Nigra	brain
50	chrX:32889800-32891400	Weak transcription	NHEK	skin

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