Variant report

Variant	nsv481922
Chromosome Location	chrX:32843389-32920346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chrX:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
3	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
4	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
5	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
6	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
7	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
8	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
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	CTCF	chrX:32852154-32852263	GM20000	blood:	n/a	n/a
12	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
13	CTCF	chrX:32916760-32916910	HEK293	kidney:	n/a	n/a
14	CTCF	chrX:32884334-32884373	GM20000	blood:	n/a	n/a
15	CTCF	chrX:32916843-32916924	MCF-7	breast:	n/a	n/a
16	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
17	CTCF	chrX:32890466-32890500	GM10248	blood:	n/a	n/a
18	CTCF	chrX:32877264-32877301	Lung_OC	lung:	n/a	n/a
19	CTCF	chrX:32910683-32910784	GM20000	blood:	n/a	n/a
20	CTCF	chrX:32916838-32916881	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chrX:32916782-32916982	GM12878	blood:	n/a	n/a
22	CTCF	chrX:32886740-32886890	HepG2	liver:	n/a	n/a
23	CTCF	chrX:32892010-32892119	GM20000	blood:	n/a	n/a
24	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
25	CTCF	chrX:32916844-32916890	MCF-7	breast:	n/a	n/a
26	CTCF	chrX:32872240-32872390	HEK293	kidney:	n/a	n/a
27	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
28	CTCF	chrX:32882634-32882690	Medullo	brain:	n/a	n/a
29	CTCF	chrX:32916760-32916910	BE2_C	brain:	n/a	n/a
30	CTCF	chrX:32912879-32912962	GM20000	blood:	n/a	n/a
31	CTCF	chrX:32875890-32875982	LNCaP	prostate:	n/a	n/a
32	E2F4	chrX:32889702-32889975	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chrX:32918629-32918717	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chrX:32858507-32858681	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chrX:32866113-32866340	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chrX:32860249-32860563	GM12878	blood:	n/a	n/a
37	EP300	chrX:32895723-32896068	T-47D	breast:	n/a	n/a
38	EP300	chrX:32895608-32896206	ECC-1	luminal epithelium:	n/a	n/a
39	FAM48A	chrX:32878505-32878595	GM12878	blood:	n/a	n/a
40	FOS	chrX:32895699-32896105	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chrX:32865952-32866522	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chrX:32889532-32890222	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chrX:32865927-32866532	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chrX:32895722-32896043	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chrX:32895081-32895321	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chrX:32895663-32896073	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chrX:32895653-32896100	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chrX:32889523-32890237	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chrX:32866088-32866451	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chrX:32866054-32866440	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:32886461-32886511	H1-hESC	embryonic stem cell:	embryo
2	chrX:32886526-32886576	HAEpiC	amniotic membrane:	n/a
3	chrX:32886526-32886576	SK-N-MC	brain:	n/a
4	chrX:32886461-32886511	AG04450	lung:	fetal
5	chrX:32886461-32886511	HUVEC	blood vessel:	n/a
6	chrX:32886461-32886511	Hela-S3	cervix:	n/a
7	chrX:32886461-32886511	ECC-1	luminal epithelium:	n/a
8	chrX:32886461-32886511	LNCaP	prostate:	n/a
9	chrX:32886526-32886576	HRCEpiC	kidney:	n/a
10	chrX:32886526-32886576	A549	lung:	n/a
11	chrX:32886461-32886511	T-47D	breast:	n/a
12	chrX:32886526-32886576	AG10803	skin:	n/a
13	chrX:32886461-32886511	AoSMC	blood vessel:	n/a
14	chrX:32886526-32886576	MCF-7	breast:	n/a
15	chrX:32886461-32886511	GM12878	blood:	n/a
16	chrX:32886526-32886576	Caco-2	colon:	n/a
17	chrX:32886461-32886511	NHDF-neo	bronchial:	n/a
18	chrX:32886461-32886511	HCM	heart:	n/a
19	chrX:32886461-32886511	AG10803	skin:	n/a
20	chrX:32886461-32886511	ovcar-3	ovarian:	n/a
21	chrX:32886461-32886511	CMK	blood:	n/a
22	chrX:32886461-32886511	PANC-1	pancreas:	n/a
23	chrX:32886526-32886576	HepG2	liver:	n/a
24	chrX:32886526-32886576	HCPEpiC	choroid plexus:	n/a
25	chrX:32886461-32886511	SK-N-SH	brain:	n/a
26	chrX:32886526-32886576	HNPCEpiC	eye:	n/a
27	chrX:32886526-32886576	GM06990	blood:	n/a
28	chrX:32886526-32886576	NHDF-neo	bronchial:	n/a
29	chrX:32886461-32886511	HepG2	liver:	n/a
30	chrX:32886526-32886576	IMR90	lung:	fetal
31	chrX:32886526-32886576	AG09319	gingival:	n/a
32	chrX:32886526-32886576	PANC-1	pancreas:	n/a
33	chrX:32886526-32886576	SK-N-SH_RA	brain:	n/a
34	chrX:32886461-32886511	AG04449	skin:	fetal
35	chrX:32886526-32886576	T-47D	breast:	n/a
36	chrX:32886526-32886576	GM12891	blood:	n/a
37	chrX:32886461-32886511	HL-60	blood:	n/a
38	chrX:32886461-32886511	HNPCEpiC	eye:	n/a
39	chrX:32886526-32886576	HCT-116	colon:	n/a
40	chrX:32886461-32886511	ProgFib	skin:	n/a
41	chrX:32886461-32886511	GM06990	blood:	n/a
42	chrX:32886526-32886576	CMK	blood:	n/a
43	chrX:32886526-32886576	AG09309	skin:	n/a
44	chrX:32886461-32886511	HEEpiC	esophagus:	n/a
45	chrX:32886461-32886511	NH-A	brain:	n/a
46	chrX:32886461-32886511	SK-N-SH_RA	brain:	n/a
47	chrX:32886526-32886576	GM12892	blood:	n/a
48	chrX:32886461-32886511	K562	blood:	n/a
49	chrX:32886526-32886576	NH-A	brain:	n/a
50	chrX:32886526-32886576	HIPEpiC	eye:	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: 1687 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1687 , 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	rs201645083	chrX:32843453-32843454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12853128	chrX:32843486-32843487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183884159	chrX:32843545-32843546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375389296	chrX:32843550-32843551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374041490	chrX:32843561-32843562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148867261	chrX:32843603-32843604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188363303	chrX:32843691-32843692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143562306	chrX:32843713-32843714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377267215	chrX:32843759-32843760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565341957	chrX:32843778-32843779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192580627	chrX:32843786-32843787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4829127	chrX:32843856-32843857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376022418	chrX:32843886-32843887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5972683	chrX:32843951-32843952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6653891	chrX:32843979-32843980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184789388	chrX:32843997-32843998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189839945	chrX:32844062-32844063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5928080	chrX:32844070-32844071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1115073	chrX:32844073-32844074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59078871	chrX:32844085-32844086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386416862	chrX:32844086-32844087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397749645	chrX:32844088-32844089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186914825	chrX:32844112-32844113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1115072	chrX:32844141-32844142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537628491	chrX:32844153-32844154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562079774	chrX:32844231-32844232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189435467	chrX:32844259-32844260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56161346	chrX:32844330-32844331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181953307	chrX:32844429-32844430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186125846	chrX:32844497-32844498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189754635	chrX:32844514-32844515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147335453	chrX:32844529-32844530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182610318	chrX:32844568-32844569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138953765	chrX:32844595-32844596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186523539	chrX:32844692-32844693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149396963	chrX:32844763-32844764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191382398	chrX:32844967-32844968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5928082	chrX:32844968-32844969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200526532	chrX:32845073-32845074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535144256	chrX:32845088-32845089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557445951	chrX:32845100-32845101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183576320	chrX:32845103-32845104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187434802	chrX:32845107-32845108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371377365	chrX:32845129-32845130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192032664	chrX:32845153-32845154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs5928083	chrX:32845169-32845170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369427262	chrX:32845180-32845181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56342103	chrX:32845182-32845183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372748041	chrX:32845183-32845184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541251011	chrX:32845184-32845185	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:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chrX:32842800-32843400	Enhancers	Fetal Heart	heart
3	chrX:32848600-32848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chrX:32853600-32853800	Enhancers	Fetal Heart	heart
6	chrX:32853800-32855200	Weak transcription	Fetal Heart	heart
7	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
8	chrX:32855200-32856200	Enhancers	Fetal Heart	heart
9	chrX:32857200-32857800	Enhancers	Primary hematopoietic stem cells	blood
10	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chrX:32859800-32862800	Weak transcription	Brain Angular Gyrus	brain
12	chrX:32859800-32869800	Weak transcription	Left Ventricle	heart
13	chrX:32860200-32860800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chrX:32860200-32860800	Enhancers	Right Atrium	heart
15	chrX:32860400-32862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:32860800-32861600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chrX:32861600-32861800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chrX:32861800-32862800	Enhancers	Fetal Heart	heart
19	chrX:32861800-32865400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chrX:32862200-32863000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chrX:32862600-32863000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:32862600-32863000	Active TSS	Brain Cingulate Gyrus	brain
23	chrX:32862600-32863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chrX:32862800-32863000	Flanking Active TSS	Brain Angular Gyrus	brain
25	chrX:32862800-32863200	Active TSS	Ovary	ovary
26	chrX:32862800-32864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chrX:32862800-32868600	Weak transcription	Fetal Heart	heart
28	chrX:32863000-32863200	Active TSS	Brain Angular Gyrus	brain
29	chrX:32863000-32864600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chrX:32863600-32864200	Enhancers	Colon Smooth Muscle	Colon
31	chrX:32863600-32864200	Enhancers	HMEC	breast
32	chrX:32864000-32864400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chrX:32864000-32864400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chrX:32864000-32864800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chrX:32864200-32866000	Weak transcription	HMEC	breast
36	chrX:32865600-32865800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chrX:32866000-32866200	Enhancers	HMEC	breast
38	chrX:32869000-32869200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chrX:32869200-32869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chrX:32869600-32871000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chrX:32869800-32870600	Enhancers	Left Ventricle	heart
42	chrX:32869800-32870800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chrX:32870200-32870800	Enhancers	Right Ventricle	heart
44	chrX:32870600-32890000	Weak transcription	Left Ventricle	heart
45	chrX:32870800-32871200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chrX:32871400-32871600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chrX:32881200-32881400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chrX:32881400-32886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chrX:32883600-32884400	Enhancers	HSMMtube	muscle
50	chrX:32884000-32884200	Enhancers	Skeletal Muscle Male	skeletal muscle

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