Variant report

Variant	nsv481886
Chromosome Location	chrX:32811647-32927063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 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:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
3	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
4	CEBPB	chrX:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
5	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chrX:32831465-32831687	HepG2	liver:	n/a	n/a
7	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
8	CEBPB	chrX:32898887-32899628	IMR90	lung:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
9	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
10	CEBPB	chrX:32831425-32831725	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
12	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
13	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
14	CHD2	chrX:32924317-32924414	K562	blood:	n/a	n/a
15	CTCF	chrX:32890466-32890500	GM10248	blood:	n/a	n/a
16	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
17	CTCF	chrX:32916844-32916890	MCF-7	breast:	n/a	n/a
18	CTCF	chrX:32877264-32877301	Lung_OC	lung:	n/a	n/a
19	CTCF	chrX:32892010-32892119	GM20000	blood:	n/a	n/a
20	CTCF	chrX:32836220-32836370	HMEC	breast:	n/a	n/a
21	CTCF	chrX:32831104-32831171	GM10266	blood:	n/a	n/a
22	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
23	CTCF	chrX:32910683-32910784	GM20000	blood:	n/a	n/a
24	CTCF	chrX:32875890-32875982	LNCaP	prostate:	n/a	n/a
25	CTCF	chrX:32916760-32916910	HEK293	kidney:	n/a	n/a
26	CTCF	chrX:32831204-32831236	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chrX:32872240-32872390	HEK293	kidney:	n/a	n/a
28	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
29	CTCF	chrX:32834010-32834073	LNCaP	prostate:	n/a	n/a
30	CTCF	chrX:32823650-32823752	GM20000	blood:	n/a	n/a
31	CTCF	chrX:32925612-32925696	K562	blood:	n/a	n/a
32	CTCF	chrX:32822791-32822834	MCF-7	breast:	n/a	n/a
33	CTCF	chrX:32839079-32839102	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chrX:32916843-32916924	MCF-7	breast:	n/a	n/a
35	CTCF	chrX:32836265-32836468	Medullo	brain:	n/a	n/a
36	CTCF	chrX:32842378-32842473	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chrX:32886740-32886890	HepG2	liver:	n/a	n/a
38	CTCF	chrX:32916782-32916982	GM12878	blood:	n/a	n/a
39	CTCF	chrX:32882634-32882690	Medullo	brain:	n/a	n/a
40	CTCF	chrX:32818692-32818774	GM20000	blood:	n/a	n/a
41	CTCF	chrX:32916838-32916881	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chrX:32852154-32852263	GM20000	blood:	n/a	n/a
43	CTCF	chrX:32830617-32830700	GM20000	blood:	n/a	n/a
44	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
45	CTCF	chrX:32838926-32839006	GM20000	blood:	n/a	n/a
46	CTCF	chrX:32916760-32916910	BE2_C	brain:	n/a	n/a
47	CTCF	chrX:32912879-32912962	GM20000	blood:	n/a	n/a
48	CTCF	chrX:32884334-32884373	GM20000	blood:	n/a	n/a
49	CUX1	chrX:32841542-32841742	GM12878	blood:	n/a	n/a
50	E2F4	chrX:32889702-32889975	MCF10A-Er-Src	breast:	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	NHDF-neo	bronchial:	n/a
2	chrX:32886461-32886511	HPAEpiC	pulmonary alveolar:	n/a
3	chrX:32886461-32886511	HRCEpiC	kidney:	n/a
4	chrX:32886461-32886511	LNCaP	prostate:	n/a
5	chrX:32886461-32886511	AG10803	skin:	n/a
6	chrX:32830005-32830055	U87	brain:	n/a
7	chrX:32830005-32830055	NT2-D1	testis:	n/a
8	chrX:32830005-32830055	Hela-S3	cervix:	n/a
9	chrX:32886526-32886576	SAEC	small airway:	n/a
10	chrX:32830005-32830055	AoSMC	blood vessel:	n/a
11	chrX:32830005-32830055	LNCaP	prostate:	n/a
12	chrX:32886526-32886576	GM06990	blood:	n/a
13	chrX:32886526-32886576	RPTEC	kidney:	n/a
14	chrX:32886461-32886511	NHBE	bronchial:	n/a
15	chrX:32886526-32886576	ProgFib	skin:	n/a
16	chrX:32830005-32830055	Hepatocyte	liver:	n/a
17	chrX:32830005-32830055	ProgFib	skin:	n/a
18	chrX:32886526-32886576	Caco-2	colon:	n/a
19	chrX:32886461-32886511	BE2_C	brain:	n/a
20	chrX:32886461-32886511	GM12891	blood:	n/a
21	chrX:32886526-32886576	AoSMC	blood vessel:	n/a
22	chrX:32886526-32886576	CMK	blood:	n/a
23	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
24	chrX:32886461-32886511	Caco-2	colon:	n/a
25	chrX:32830005-32830055	SK-N-MC	brain:	n/a
26	chrX:32830005-32830055	HEEpiC	esophagus:	n/a
27	chrX:32886461-32886511	PANC-1	pancreas:	n/a
28	chrX:32830005-32830055	PFSK-1	brain:	n/a
29	chrX:32886526-32886576	SK-N-SH	brain:	n/a
30	chrX:32886526-32886576	IMR90	lung:	fetal
31	chrX:32886461-32886511	U87	brain:	n/a
32	chrX:32830005-32830055	NHBE	bronchial:	n/a
33	chrX:32886526-32886576	PANC-1	pancreas:	n/a
34	chrX:32886526-32886576	LNCaP	prostate:	n/a
35	chrX:32886461-32886511	HMEC	breast:	n/a
36	chrX:32886526-32886576	NB4	blood:	n/a
37	chrX:32886461-32886511	PrEC	prostate:	n/a
38	chrX:32886461-32886511	A549	lung:	n/a
39	chrX:32886461-32886511	HCF	heart:	n/a
40	chrX:32886461-32886511	AG04450	lung:	fetal
41	chrX:32886526-32886576	HCF	heart:	n/a
42	chrX:32886461-32886511	ovcar-3	ovarian:	n/a
43	chrX:32830005-32830055	NB4	blood:	n/a
44	chrX:32830005-32830055	NH-A	brain:	n/a
45	chrX:32830005-32830055	PrEC	prostate:	n/a
46	chrX:32886461-32886511	HAEpiC	amniotic membrane:	n/a
47	chrX:32886526-32886576	HCT-116	colon:	n/a
48	chrX:32886526-32886576	HepG2	liver:	n/a
49	chrX:32830005-32830055	HRPEpiC	eye:	n/a
50	chrX:32830005-32830055	MCF-7	breast:	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: 2535 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2535 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539553963	chrX:32811660-32811661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373337318	chrX:32811661-32811662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369824425	chrX:32811670-32811671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183173640	chrX:32811795-32811796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187462288	chrX:32811813-32811814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192598502	chrX:32811830-32811831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184124625	chrX:32811844-32811845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6631645	chrX:32811886-32811887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188626789	chrX:32812056-32812057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192723299	chrX:32812124-32812125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140407182	chrX:32812144-32812145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560490455	chrX:32812295-32812296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567903146	chrX:32812316-32812317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184346388	chrX:32812337-32812338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190016651	chrX:32812367-32812368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73621835	chrX:32812375-32812376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553629579	chrX:32812433-32812434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2748303	chrX:32812475-32812476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191624098	chrX:32812516-32812517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539159982	chrX:32812530-32812531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527729862	chrX:32812593-32812594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141680486	chrX:32812699-32812700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2748304	chrX:32812719-32812720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369621441	chrX:32812731-32812732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73621836	chrX:32812733-32812734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73211810	chrX:32812735-32812736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138374692	chrX:32812823-32812824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142679321	chrX:32813022-32813023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181422963	chrX:32813057-32813058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546167465	chrX:32813109-32813110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187431741	chrX:32813121-32813122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147358335	chrX:32813129-32813130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190197512	chrX:32813139-32813140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181074709	chrX:32813168-32813169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375634037	chrX:32813275-32813276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201983429	chrX:32813286-32813287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369074265	chrX:32813334-32813335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139302301	chrX:32813359-32813360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542697613	chrX:32813371-32813372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143328144	chrX:32813477-32813478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373961841	chrX:32813586-32813587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555634048	chrX:32813594-32813595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372685591	chrX:32813692-32813693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111765091	chrX:32813702-32813703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144782273	chrX:32813846-32813847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371150931	chrX:32813858-32813859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148566694	chrX:32813881-32813882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190377994	chrX:32813882-32813883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372052823	chrX:32813890-32813891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2144383	chrX:32813923-32813924	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:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32808600-32832400	Weak transcription	Fetal Heart	heart
2	chrX:32816000-32817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chrX:32817000-32817200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chrX:32817200-32817800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chrX:32817600-32842000	Weak transcription	HSMMtube	muscle
6	chrX:32817800-32818600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chrX:32818600-32823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chrX:32819200-32823800	Weak transcription	Right Ventricle	heart
9	chrX:32820800-32825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chrX:32821600-32823600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chrX:32821800-32822800	Weak transcription	Stomach Smooth Muscle	stomach
12	chrX:32822200-32822600	ZNF genes & repeats	Aorta	Aorta
13	chrX:32822200-32822800	ZNF genes & repeats	Fetal Stomach	stomach
14	chrX:32822400-32823400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chrX:32822600-32822800	ZNF genes & repeats	Left Ventricle	heart
16	chrX:32822800-32824200	Weak transcription	Left Ventricle	heart
17	chrX:32825200-32842200	Weak transcription	HSMM	muscle
18	chrX:32825800-32827000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chrX:32827000-32834200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chrX:32832400-32832800	Enhancers	Fetal Heart	heart
21	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chrX:32832800-32842800	Weak transcription	Fetal Heart	heart
23	chrX:32836800-32837200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chrX:32837400-32837800	Enhancers	Stomach Smooth Muscle	stomach
25	chrX:32842000-32842200	Enhancers	HSMMtube	muscle
26	chrX:32842200-32842400	Weak transcription	HSMMtube	muscle
27	chrX:32842800-32843400	Enhancers	Fetal Heart	heart
28	chrX:32848600-32848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chrX:32853600-32853800	Enhancers	Fetal Heart	heart
31	chrX:32853800-32855200	Weak transcription	Fetal Heart	heart
32	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
33	chrX:32855200-32856200	Enhancers	Fetal Heart	heart
34	chrX:32857200-32857800	Enhancers	Primary hematopoietic stem cells	blood
35	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chrX:32859800-32862800	Weak transcription	Brain Angular Gyrus	brain
37	chrX:32859800-32869800	Weak transcription	Left Ventricle	heart
38	chrX:32860200-32860800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chrX:32860200-32860800	Enhancers	Right Atrium	heart
40	chrX:32860400-32862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chrX:32860800-32861600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chrX:32861600-32861800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chrX:32861800-32862800	Enhancers	Fetal Heart	heart
44	chrX:32861800-32865400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chrX:32862200-32863000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chrX:32862600-32863000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chrX:32862600-32863000	Active TSS	Brain Cingulate Gyrus	brain
48	chrX:32862600-32863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chrX:32862800-32863000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chrX:32862800-32863200	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links