Variant report

Variant	nsv481923
Chromosome Location	chrX:32847596-32995837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:265)
CpG islands
(count:125)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:265 , 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:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
3	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
4	CEBPB	chrX:32949288-32949498	HepG2	liver:	n/a	chrX:32949415-32949426 chrX:32949416-32949425
5	CEBPB	chrX:32936661-32936954	IMR90	lung:	n/a	n/a
6	CEBPB	chrX:32936731-32936967	A549	lung:	n/a	n/a
7	CEBPB	chrX:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
8	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
9	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
10	CEBPB	chrX:32898887-32899628	IMR90	lung:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
11	CEBPB	chrX:32949269-32949597	IMR90	lung:	n/a	chrX:32949502-32949513 chrX:32949415-32949426 chrX:32949500-32949513 chrX:32949416-32949425
12	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
13	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
15	CHD2	chrX:32924317-32924414	K562	blood:	n/a	n/a
16	CTCF	chrX:32938865-32938891	GM10248	blood:	n/a	n/a
17	CTCF	chrX:32982183-32982248	GM10266	blood:	n/a	n/a
18	CTCF	chrX:32875890-32875982	LNCaP	prostate:	n/a	n/a
19	CTCF	chrX:32912879-32912962	GM20000	blood:	n/a	n/a
20	CTCF	chrX:32958897-32958975	LNCaP	prostate:	n/a	n/a
21	CTCF	chrX:32884334-32884373	GM20000	blood:	n/a	n/a
22	CTCF	chrX:32931718-32931781	ProgFib	skin:	n/a	n/a
23	CTCF	chrX:32916838-32916881	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chrX:32925612-32925696	K562	blood:	n/a	n/a
25	CTCF	chrX:32973846-32973936	LNCaP	prostate:	n/a	n/a
26	CTCF	chrX:32910683-32910784	GM20000	blood:	n/a	n/a
27	CTCF	chrX:32982287-32982332	ProgFib	skin:	n/a	n/a
28	CTCF	chrX:32877264-32877301	Lung_OC	lung:	n/a	n/a
29	CTCF	chrX:32943514-32943600	GM20000	blood:	n/a	n/a
30	CTCF	chrX:32916843-32916924	MCF-7	breast:	n/a	n/a
31	CTCF	chrX:32942373-32942449	LNCaP	prostate:	n/a	n/a
32	CTCF	chrX:32916844-32916890	MCF-7	breast:	n/a	n/a
33	CTCF	chrX:32916782-32916982	GM12878	blood:	n/a	n/a
34	CTCF	chrX:32892010-32892119	GM20000	blood:	n/a	n/a
35	CTCF	chrX:32882634-32882690	Medullo	brain:	n/a	n/a
36	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
37	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
38	CTCF	chrX:32916760-32916910	HEK293	kidney:	n/a	n/a
39	CTCF	chrX:32928757-32928836	LNCaP	prostate:	n/a	n/a
40	CTCF	chrX:32916760-32916910	BE2_C	brain:	n/a	n/a
41	CTCF	chrX:32886740-32886890	HepG2	liver:	n/a	n/a
42	CTCF	chrX:32959872-32959900	LNCaP	prostate:	n/a	n/a
43	CTCF	chrX:32976955-32977029	GM10248	blood:	n/a	n/a
44	CTCF	chrX:32936516-32936584	ProgFib	skin:	n/a	n/a
45	CTCF	chrX:32951401-32951458	GM20000	blood:	n/a	n/a
46	CTCF	chrX:32954848-32954869	GM10248	blood:	n/a	n/a
47	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
48	CTCF	chrX:32982569-32982679	LNCaP	prostate:	n/a	n/a
49	CTCF	chrX:32890466-32890500	GM10248	blood:	n/a	n/a
50	CTCF	chrX:32929230-32929280	GM10248	blood:	n/a	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:32886461-32886511	AG09309	skin:	n/a
2	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
3	chrX:32886461-32886511	GM12892	blood:	n/a
4	chrX:32886461-32886511	AG09309	skin:	n/a
5	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
6	chrX:32886461-32886511	GM12892	blood:	n/a
7	chrX:32886461-32886511	MCF-7	breast:	n/a
8	chrX:32886461-32886511	HL-60	blood:	n/a
9	chrX:32886526-32886576	HCM	heart:	n/a
10	chrX:32886526-32886576	ECC-1	luminal epithelium:	n/a
11	chrX:32886461-32886511	PFSK-1	brain:	n/a
12	chrX:32886526-32886576	HRPEpiC	eye:	n/a
13	chrX:32886526-32886576	HNPCEpiC	eye:	n/a
14	chrX:32886461-32886511	BE2_C	brain:	n/a
15	chrX:32886461-32886511	HCT-116	colon:	n/a
16	chrX:32886461-32886511	HAEpiC	amniotic membrane:	n/a
17	chrX:32886461-32886511	PrEC	prostate:	n/a
18	chrX:32886526-32886576	Hela-S3	cervix:	n/a
19	chrX:32886526-32886576	GM12891	blood:	n/a
20	chrX:32886461-32886511	AG09319	gingival:	n/a
21	chrX:32886461-32886511	T-47D	breast:	n/a
22	chrX:32886461-32886511	HIPEpiC	eye:	n/a
23	chrX:32886461-32886511	HEEpiC	esophagus:	n/a
24	chrX:32886526-32886576	HIPEpiC	eye:	n/a
25	chrX:32886526-32886576	PANC-1	pancreas:	n/a
26	chrX:32886461-32886511	HCM	heart:	n/a
27	chrX:32886461-32886511	HRCEpiC	kidney:	n/a
28	chrX:32886526-32886576	AG09309	skin:	n/a
29	chrX:32886526-32886576	SAEC	small airway:	n/a
30	chrX:32886461-32886511	ovcar-3	ovarian:	n/a
31	chrX:32886526-32886576	HRE	kidney:	n/a
32	chrX:32886461-32886511	HUVEC	blood vessel:	n/a
33	chrX:32886461-32886511	GM19239	blood:	n/a
34	chrX:32886461-32886511	AG04450	lung:	fetal
35	chrX:32886461-32886511	GM12891	blood:	n/a
36	chrX:32886461-32886511	H1-hESC	embryonic stem cell:	embryo
37	chrX:32886526-32886576	GM06990	blood:	n/a
38	chrX:32886461-32886511	NT2-D1	testis:	n/a
39	chrX:32886461-32886511	AG10803	skin:	n/a
40	chrX:32886526-32886576	BJ	skin:	n/a
41	chrX:32886526-32886576	H1-hESC	embryonic stem cell:	embryo
42	chrX:32886526-32886576	ovcar-3	ovarian:	n/a
43	chrX:32886526-32886576	SK-N-MC	brain:	n/a
44	chrX:32886526-32886576	PrEC	prostate:	n/a
45	chrX:32886526-32886576	HEEpiC	esophagus:	n/a
46	chrX:32886461-32886511	HMEC	breast:	n/a
47	chrX:32886461-32886511	NH-A	brain:	n/a
48	chrX:32886526-32886576	NH-A	brain:	n/a
49	chrX:32886526-32886576	HepG2	liver:	n/a
50	chrX:32886461-32886511	K562	blood:	n/a

(count:3 , 50 per page) page: 1

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

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: 2700 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2700 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146931254	chrX:32847705-32847706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187967217	chrX:32847709-32847710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148368845	chrX:32847710-32847711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540738222	chrX:32847720-32847721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375914167	chrX:32847855-32847856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141582868	chrX:32847886-32847887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202233347	chrX:32847940-32847941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150450988	chrX:32847974-32847975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35136661	chrX:32848015-32848016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559064154	chrX:32848081-32848082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369698598	chrX:32848384-32848385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202164779	chrX:32848413-32848414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192199871	chrX:32848449-32848450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184028345	chrX:32848463-32848464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186842957	chrX:32848473-32848474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73621843	chrX:32848524-32848525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192278906	chrX:32848612-32848613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532936363	chrX:32848668-32848669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200366098	chrX:32848709-32848710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77521961	chrX:32848718-32848719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184294402	chrX:32848744-32848745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142845759	chrX:32848776-32848777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113203319	chrX:32848916-32848917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5928084	chrX:32848934-32848935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527403878	chrX:32848935-32848936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190512827	chrX:32849054-32849055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531124026	chrX:32849148-32849149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549570383	chrX:32849167-32849168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182285126	chrX:32849253-32849254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140079686	chrX:32849355-32849356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141928402	chrX:32849528-32849529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185444048	chrX:32849537-32849538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4829269	chrX:32849544-32849545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189515923	chrX:32849556-32849557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180699899	chrX:32849620-32849621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185709293	chrX:32849667-32849668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190213394	chrX:32849681-32849682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371178350	chrX:32849682-32849683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181710721	chrX:32849691-32849692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6151283	chrX:32849767-32849768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10523222	chrX:32849796-32849797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56138313	chrX:32849812-32849813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1406997	chrX:32849814-32849815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191469038	chrX:32849939-32849940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148477667	chrX:32849963-32849964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184120057	chrX:32849980-32849981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571678833	chrX:32850052-32850053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188624588	chrX:32850083-32850084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142720273	chrX:32850200-32850201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs66760061	chrX:32850514-32850515	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:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chrX:32848600-32848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:32853600-32853800	Enhancers	Fetal Heart	heart
5	chrX:32853800-32855200	Weak transcription	Fetal Heart	heart
6	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
7	chrX:32855200-32856200	Enhancers	Fetal Heart	heart
8	chrX:32857200-32857800	Enhancers	Primary hematopoietic stem cells	blood
9	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chrX:32859800-32862800	Weak transcription	Brain Angular Gyrus	brain
11	chrX:32859800-32869800	Weak transcription	Left Ventricle	heart
12	chrX:32860200-32860800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chrX:32860200-32860800	Enhancers	Right Atrium	heart
14	chrX:32860400-32862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chrX:32860800-32861600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chrX:32861600-32861800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chrX:32861800-32862800	Enhancers	Fetal Heart	heart
18	chrX:32861800-32865400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chrX:32862200-32863000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chrX:32862600-32863000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chrX:32862600-32863000	Active TSS	Brain Cingulate Gyrus	brain
22	chrX:32862600-32863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chrX:32862800-32863000	Flanking Active TSS	Brain Angular Gyrus	brain
24	chrX:32862800-32863200	Active TSS	Ovary	ovary
25	chrX:32862800-32864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chrX:32862800-32868600	Weak transcription	Fetal Heart	heart
27	chrX:32863000-32863200	Active TSS	Brain Angular Gyrus	brain
28	chrX:32863000-32864600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chrX:32863600-32864200	Enhancers	Colon Smooth Muscle	Colon
30	chrX:32863600-32864200	Enhancers	HMEC	breast
31	chrX:32864000-32864400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chrX:32864000-32864400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chrX:32864000-32864800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chrX:32864200-32866000	Weak transcription	HMEC	breast
35	chrX:32865600-32865800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chrX:32866000-32866200	Enhancers	HMEC	breast
37	chrX:32869000-32869200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chrX:32869200-32869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chrX:32869600-32871000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chrX:32869800-32870600	Enhancers	Left Ventricle	heart
41	chrX:32869800-32870800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chrX:32870200-32870800	Enhancers	Right Ventricle	heart
43	chrX:32870600-32890000	Weak transcription	Left Ventricle	heart
44	chrX:32870800-32871200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chrX:32871400-32871600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chrX:32881200-32881400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chrX:32881400-32886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chrX:32883600-32884400	Enhancers	HSMMtube	muscle
49	chrX:32884000-32884200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chrX:32884200-32884400	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links