Variant report

Variant	nsv481887
Chromosome Location	chrX:32802705-32940759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

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:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
3	CEBPB	chrX:32898887-32899628	IMR90	lung:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
4	CEBPB	chrX:32936731-32936967	A549	lung:	n/a	n/a
5	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
6	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
7	CEBPB	chrX:32936661-32936954	IMR90	lung:	n/a	n/a
8	CEBPB	chrX:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
9	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
12	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
13	CEBPB	chrX:32831465-32831687	HepG2	liver:	n/a	n/a
14	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
15	CEBPB	chrX:32831425-32831725	IMR90	lung:	n/a	n/a
16	CHD2	chrX:32924317-32924414	K562	blood:	n/a	n/a
17	CTCF	chrX:32830617-32830700	GM20000	blood:	n/a	n/a
18	CTCF	chrX:32822791-32822834	MCF-7	breast:	n/a	n/a
19	CTCF	chrX:32892010-32892119	GM20000	blood:	n/a	n/a
20	CTCF	chrX:32940721-32940856	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chrX:32872240-32872390	HEK293	kidney:	n/a	n/a
22	CTCF	chrX:32916838-32916881	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chrX:32931718-32931781	ProgFib	skin:	n/a	n/a
24	CTCF	chrX:32928757-32928836	LNCaP	prostate:	n/a	n/a
25	CTCF	chrX:32877264-32877301	Lung_OC	lung:	n/a	n/a
26	CTCF	chrX:32929230-32929280	GM10248	blood:	n/a	n/a
27	CTCF	chrX:32916782-32916982	GM12878	blood:	n/a	n/a
28	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
29	CTCF	chrX:32842378-32842473	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chrX:32818692-32818774	GM20000	blood:	n/a	n/a
31	CTCF	chrX:32836265-32836468	Medullo	brain:	n/a	n/a
32	CTCF	chrX:32831204-32831236	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chrX:32875890-32875982	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:32884334-32884373	GM20000	blood:	n/a	n/a
35	CTCF	chrX:32834010-32834073	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
37	CTCF	chrX:32936516-32936584	ProgFib	skin:	n/a	n/a
38	CTCF	chrX:32938865-32938891	GM10248	blood:	n/a	n/a
39	CTCF	chrX:32912879-32912962	GM20000	blood:	n/a	n/a
40	CTCF	chrX:32910683-32910784	GM20000	blood:	n/a	n/a
41	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
42	CTCF	chrX:32838926-32839006	GM20000	blood:	n/a	n/a
43	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
44	CTCF	chrX:32823650-32823752	GM20000	blood:	n/a	n/a
45	CTCF	chrX:32916760-32916910	HEK293	kidney:	n/a	n/a
46	CTCF	chrX:32916760-32916910	BE2_C	brain:	n/a	n/a
47	CTCF	chrX:32890466-32890500	GM10248	blood:	n/a	n/a
48	CTCF	chrX:32839079-32839102	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chrX:32916844-32916890	MCF-7	breast:	n/a	n/a
50	CTCF	chrX:32882634-32882690	Medullo	brain:	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:32886461-32886511	HMEC	breast:	n/a
2	chrX:32886461-32886511	NHBE	bronchial:	n/a
3	chrX:32886526-32886576	CMK	blood:	n/a
4	chrX:32886461-32886511	SK-N-SH	brain:	n/a
5	chrX:32830005-32830055	HRPEpiC	eye:	n/a
6	chrX:32886526-32886576	BE2_C	brain:	n/a
7	chrX:32886461-32886511	HEK293	kidney:	embryo
8	chrX:32886526-32886576	HCM	heart:	n/a
9	chrX:32886526-32886576	Hepatocyte	liver:	n/a
10	chrX:32886461-32886511	SK-N-MC	brain:	n/a
11	chrX:32886526-32886576	GM12878	blood:	n/a
12	chrX:32886461-32886511	T-47D	breast:	n/a
13	chrX:32886461-32886511	NT2-D1	testis:	n/a
14	chrX:32886526-32886576	RPTEC	kidney:	n/a
15	chrX:32886461-32886511	HCPEpiC	choroid plexus:	n/a
16	chrX:32886526-32886576	AG09309	skin:	n/a
17	chrX:32830005-32830055	HNPCEpiC	eye:	n/a
18	chrX:32886526-32886576	SKMC	muscle:	n/a
19	chrX:32830005-32830055	GM19239	blood:	n/a
20	chrX:32886526-32886576	AG10803	skin:	n/a
21	chrX:32830005-32830055	NT2-D1	testis:	n/a
22	chrX:32830005-32830055	HCT-116	colon:	n/a
23	chrX:32886461-32886511	GM12891	blood:	n/a
24	chrX:32830005-32830055	PFSK-1	brain:	n/a
25	chrX:32830005-32830055	BE2_C	brain:	n/a
26	chrX:32830005-32830055	NH-A	brain:	n/a
27	chrX:32830005-32830055	HCF	heart:	n/a
28	chrX:32830005-32830055	GM12878	blood:	n/a
29	chrX:32886526-32886576	K562	blood:	n/a
30	chrX:32830005-32830055	MCF10A-Er-Src	breast:	n/a
31	chrX:32886461-32886511	AG04450	lung:	fetal
32	chrX:32886526-32886576	Jurkat	blood:	n/a
33	chrX:32886526-32886576	HCT-116	colon:	n/a
34	chrX:32886526-32886576	BJ	skin:	n/a
35	chrX:32886526-32886576	NHDF-neo	bronchial:	n/a
36	chrX:32886526-32886576	GM12891	blood:	n/a
37	chrX:32886461-32886511	Jurkat	blood:	n/a
38	chrX:32886526-32886576	AG04450	lung:	fetal
39	chrX:32886526-32886576	U87	brain:	n/a
40	chrX:32830005-32830055	LNCaP	prostate:	n/a
41	chrX:32886461-32886511	HCF	heart:	n/a
42	chrX:32886526-32886576	SK-N-MC	brain:	n/a
43	chrX:32886461-32886511	LNCaP	prostate:	n/a
44	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
45	chrX:32886461-32886511	MCF10A-Er-Src	breast:	n/a
46	chrX:32886461-32886511	NHDF-neo	bronchial:	n/a
47	chrX:32830005-32830055	K562	blood:	n/a
48	chrX:32886526-32886576	HRE	kidney:	n/a
49	chrX:32830005-32830055	MCF-7	breast:	n/a
50	chrX:32830005-32830055	HRE	kidney:	n/a

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: 2879 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2879 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562038546	chrX:32802734-32802735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186601305	chrX:32802735-32802736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578194044	chrX:32802744-32802745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7050701	chrX:32802776-32802777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191787152	chrX:32802810-32802811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138366351	chrX:32802837-32802838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371500969	chrX:32802881-32802882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184058994	chrX:32802904-32802905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374979303	chrX:32802966-32802967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202022698	chrX:32803010-32803011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7049846	chrX:32803030-32803031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375076458	chrX:32803045-32803046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12387458	chrX:32803092-32803093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188399470	chrX:32803112-32803113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12387491	chrX:32803139-32803140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5971660	chrX:32803196-32803197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7050124	chrX:32803208-32803209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372595807	chrX:32803248-32803249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192914428	chrX:32803250-32803251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375806123	chrX:32803260-32803261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550668969	chrX:32803320-32803321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375896664	chrX:32803342-32803343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148030155	chrX:32803349-32803350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141718951	chrX:32803404-32803405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150568785	chrX:32803432-32803433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59714521	chrX:32803465-32803466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111999337	chrX:32803498-32803499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550331275	chrX:32803669-32803670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185281931	chrX:32803742-32803743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563399577	chrX:32803743-32803744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111678981	chrX:32803758-32803759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190554339	chrX:32803776-32803777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182326303	chrX:32803779-32803780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371007565	chrX:32803796-32803797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73211806	chrX:32803874-32803875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188371761	chrX:32803875-32803876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373572313	chrX:32803968-32803969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180734343	chrX:32803997-32803998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185735611	chrX:32804068-32804069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112382490	chrX:32804193-32804194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368269067	chrX:32804203-32804204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73462820	chrX:32804273-32804274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6631643	chrX:32804323-32804324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201952618	chrX:32804388-32804389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112449312	chrX:32804396-32804397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370224958	chrX:32804445-32804446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576376328	chrX:32804447-32804448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568634748	chrX:32804476-32804477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12688784	chrX:32804550-32804551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145848060	chrX:32804565-32804566	Enhancers	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:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32797400-32804400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chrX:32804200-32804400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chrX:32804400-32805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chrX:32804400-32805400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chrX:32804800-32805600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chrX:32805200-32805400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:32807000-32807800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chrX:32807000-32808000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chrX:32807200-32807600	Enhancers	Brain Angular Gyrus	brain
10	chrX:32807200-32807600	Enhancers	Fetal Heart	heart
11	chrX:32807200-32807600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chrX:32807200-32809600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chrX:32807600-32808000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chrX:32807600-32808400	Weak transcription	Fetal Heart	heart
15	chrX:32808000-32809600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chrX:32808400-32808600	Enhancers	Fetal Heart	heart
17	chrX:32808600-32808800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chrX:32808600-32809600	Enhancers	Left Ventricle	heart
19	chrX:32808600-32832400	Weak transcription	Fetal Heart	heart
20	chrX:32808800-32809000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chrX:32808800-32809400	Enhancers	Right Ventricle	heart
22	chrX:32809600-32809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chrX:32816000-32817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chrX:32817000-32817200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chrX:32817200-32817800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chrX:32817600-32842000	Weak transcription	HSMMtube	muscle
27	chrX:32817800-32818600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chrX:32818600-32823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chrX:32819200-32823800	Weak transcription	Right Ventricle	heart
30	chrX:32820800-32825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chrX:32821600-32823600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chrX:32821800-32822800	Weak transcription	Stomach Smooth Muscle	stomach
33	chrX:32822200-32822600	ZNF genes & repeats	Aorta	Aorta
34	chrX:32822200-32822800	ZNF genes & repeats	Fetal Stomach	stomach
35	chrX:32822400-32823400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chrX:32822600-32822800	ZNF genes & repeats	Left Ventricle	heart
37	chrX:32822800-32824200	Weak transcription	Left Ventricle	heart
38	chrX:32825200-32842200	Weak transcription	HSMM	muscle
39	chrX:32825800-32827000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chrX:32827000-32834200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chrX:32832400-32832800	Enhancers	Fetal Heart	heart
42	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chrX:32832800-32842800	Weak transcription	Fetal Heart	heart
44	chrX:32836800-32837200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chrX:32837400-32837800	Enhancers	Stomach Smooth Muscle	stomach
46	chrX:32842000-32842200	Enhancers	HSMMtube	muscle
47	chrX:32842200-32842400	Weak transcription	HSMMtube	muscle
48	chrX:32842800-32843400	Enhancers	Fetal Heart	heart
49	chrX:32848600-32848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links