Variant report

Variant	nsv481878
Chromosome Location	chrX:32833554-32868088
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	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
2	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
3	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
4	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
5	CTCF	chrX:32836265-32836468	Medullo	brain:	n/a	n/a
6	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
7	CTCF	chrX:32852154-32852263	GM20000	blood:	n/a	n/a
8	CTCF	chrX:32839079-32839102	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chrX:32836220-32836370	HMEC	breast:	n/a	n/a
10	CTCF	chrX:32842378-32842473	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
12	CTCF	chrX:32838926-32839006	GM20000	blood:	n/a	n/a
13	CTCF	chrX:32834010-32834073	LNCaP	prostate:	n/a	n/a
14	CUX1	chrX:32841542-32841742	GM12878	blood:	n/a	n/a
15	E2F4	chrX:32866113-32866340	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chrX:32858507-32858681	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chrX:32860249-32860563	GM12878	blood:	n/a	n/a
18	FOS	chrX:32842128-32842396	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chrX:32842087-32842396	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chrX:32842100-32842377	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chrX:32842083-32842414	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chrX:32836002-32836264	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chrX:32865952-32866522	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chrX:32866054-32866440	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chrX:32866088-32866451	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chrX:32865927-32866532	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chrX:32862736-32863030	T-47D	breast:	n/a	n/a
28	FOXA1	chrX:32862769-32863042	T-47D	breast:	n/a	n/a
29	GATA3	chrX:32851068-32851237	SH-SY5Y	brain:	n/a	n/a
30	MYC	chrX:32866069-32866361	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chrX:32868042-32868133	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chrX:32866171-32866371	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chrX:32844460-32844474	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chrX:32846549-32846992	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chrX:32859322-32859334	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chrX:32853660-32853740	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chrX:32843578-32843690	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chrX:32850932-32850937	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chrX:32842783-32842983	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chrX:32839494-32839616	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chrX:32868024-32868114	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chrX:32843648-32843654	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chrX:32855664-32855719	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chrX:32865160-32865212	ProgFib	skin:	n/a	n/a
45	POLR2A	chrX:32864614-32864645	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chrX:32860072-32860140	MCF10A-Er-Src	breast:	n/a	n/a
47	REST	chrX:32862780-32862976	H1-hESC	embryonic stem cell:	n/a	chrX:32862881-32862890 chrX:32862876-32862896
48	REST	chrX:32862788-32862948	H1-hESC	embryonic stem cell:	n/a	chrX:32862881-32862890 chrX:32862876-32862896
49	STAT3	chrX:32865672-32866445	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chrX:32866013-32866522	MCF10A-Er-Src	breast:	n/a	n/a

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

Extended variants
information (count: 782 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202194937	chrX:32833610-32833611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143554948	chrX:32833621-32833622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200308524	chrX:32833633-32833634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201768129	chrX:32833635-32833636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199721589	chrX:32833637-32833638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61365382	chrX:32833638-32833639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11796100	chrX:32833639-32833640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6527225	chrX:32833655-32833656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6653591	chrX:32833659-32833660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371973852	chrX:32833824-32833825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4403544	chrX:32833825-32833826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564402905	chrX:32833862-32833863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111784825	chrX:32833882-32833883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4265342	chrX:32833915-32833916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182371079	chrX:32833925-32833926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150198771	chrX:32834008-32834009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186763675	chrX:32834012-32834013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576517895	chrX:32834091-32834092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138619112	chrX:32834128-32834129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562043473	chrX:32834341-32834342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370194735	chrX:32834363-32834364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191147803	chrX:32834364-32834365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543421181	chrX:32834389-32834390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372376703	chrX:32834425-32834426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183154979	chrX:32834460-32834461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72470522	chrX:32834499-32834500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35367378	chrX:32834516-32834517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375766850	chrX:32834556-32834557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370019240	chrX:32834566-32834567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72470523	chrX:32834578-32834579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398123983	chrX:32834584-32834585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141028860	chrX:32834589-32834590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113776167	chrX:32834590-32834591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs128626236	chrX:32834612-32834613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150239235	chrX:32834614-32834615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398123970	chrX:32834626-32834627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398123967	chrX:32834637-32834638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377054762	chrX:32834672-32834673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398123952	chrX:32834681-32834682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs128626235	chrX:32834682-32834683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398123949	chrX:32834702-32834703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1800256	chrX:32834717-32834718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369393046	chrX:32834749-32834750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192050146	chrX:32834764-32834765	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373485574	chrX:32834791-32834792	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs12557349	chrX:32834807-32834808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs72470524	chrX:32834808-32834809	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs72470525	chrX:32834830-32834831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs17338849	chrX:32834837-32834838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs143546960	chrX:32834894-32834895	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32817600-32842000	Weak transcription	HSMMtube	muscle
2	chrX:32825200-32842200	Weak transcription	HSMM	muscle
3	chrX:32827000-32834200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chrX:32832800-32842800	Weak transcription	Fetal Heart	heart
6	chrX:32836800-32837200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chrX:32837400-32837800	Enhancers	Stomach Smooth Muscle	stomach
8	chrX:32842000-32842200	Enhancers	HSMMtube	muscle
9	chrX:32842200-32842400	Weak transcription	HSMMtube	muscle
10	chrX:32842800-32843400	Enhancers	Fetal Heart	heart
11	chrX:32848600-32848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chrX:32853600-32853800	Enhancers	Fetal Heart	heart
14	chrX:32853800-32855200	Weak transcription	Fetal Heart	heart
15	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
16	chrX:32855200-32856200	Enhancers	Fetal Heart	heart
17	chrX:32857200-32857800	Enhancers	Primary hematopoietic stem cells	blood
18	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chrX:32859800-32862800	Weak transcription	Brain Angular Gyrus	brain
20	chrX:32859800-32869800	Weak transcription	Left Ventricle	heart
21	chrX:32860200-32860800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chrX:32860200-32860800	Enhancers	Right Atrium	heart
23	chrX:32860400-32862200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chrX:32860800-32861600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chrX:32861600-32861800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chrX:32861800-32862800	Enhancers	Fetal Heart	heart
27	chrX:32861800-32865400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chrX:32862200-32863000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chrX:32862600-32863000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chrX:32862600-32863000	Active TSS	Brain Cingulate Gyrus	brain
31	chrX:32862600-32863400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chrX:32862800-32863000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chrX:32862800-32863200	Active TSS	Ovary	ovary
34	chrX:32862800-32864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chrX:32862800-32868600	Weak transcription	Fetal Heart	heart
36	chrX:32863000-32863200	Active TSS	Brain Angular Gyrus	brain
37	chrX:32863000-32864600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chrX:32863600-32864200	Enhancers	Colon Smooth Muscle	Colon
39	chrX:32863600-32864200	Enhancers	HMEC	breast
40	chrX:32864000-32864400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chrX:32864000-32864400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chrX:32864000-32864800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chrX:32864200-32866000	Weak transcription	HMEC	breast
44	chrX:32865600-32865800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chrX:32866000-32866200	Enhancers	HMEC	breast

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