Variant report

Variant	nsv527085
Chromosome Location	chrX:31491980-31577462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:336)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:31562099-31562120	K562	blood:	n/a	n/a
2	ARID3A	chrX:31558422-31558741	K562	blood:	n/a	n/a
3	ATF1	chrX:31561944-31562144	K562	blood:	n/a	n/a
4	ATF1	chrX:31573635-31574055	K562	blood:	n/a	n/a
5	BACH1	chrX:31517260-31517602	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chrX:31564152-31564544	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chrX:31573688-31573950	K562	blood:	n/a	n/a
8	CEBPB	chrX:31571787-31571847	HepG2	liver:	n/a	chrX:31571796-31571807 chrX:31571796-31571809 chrX:31571798-31571809
9	CEBPB	chrX:31498870-31499174	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chrX:31577276-31578006	IMR90	lung:	n/a	chrX:31577816-31577827
11	CEBPB	chrX:31570114-31570314	K562	blood:	n/a	n/a
12	CEBPB	chrX:31569997-31570394	IMR90	lung:	n/a	n/a
13	CEBPB	chrX:31529159-31529352	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chrX:31573691-31574046	K562	blood:	n/a	chrX:31573965-31573977
15	CEBPB	chrX:31498840-31499200	HepG2	liver:	n/a	n/a
16	CEBPB	chrX:31561663-31562331	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chrX:31524549-31524822	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chrX:31498859-31499182	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chrX:31573766-31573996	IMR90	lung:	n/a	chrX:31573965-31573977
20	CEBPB	chrX:31493581-31493777	K562	blood:	n/a	n/a
21	CEBPB	chrX:31558555-31558836	K562	blood:	n/a	n/a
22	CEBPB	chrX:31498832-31499204	K562	blood:	n/a	n/a
23	CEBPB	chrX:31570105-31570305	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chrX:31498848-31499181	A549	lung:	n/a	n/a
25	CEBPB	chrX:31498839-31499206	IMR90	lung:	n/a	n/a
26	CEBPB	chrX:31573689-31574029	Hela-S3	cervix:	n/a	chrX:31573965-31573977
27	CEBPB	chrX:31564248-31564506	IMR90	lung:	n/a	n/a
28	CEBPB	chrX:31564204-31564621	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chrX:31560735-31561088	Hela-S3	cervix:	n/a	n/a
30	CHD1	chrX:31519110-31519142	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chrX:31564268-31564632	Hela-S3	cervix:	n/a	n/a
32	CTCF	chrX:31564727-31564818	LNCaP	prostate:	n/a	n/a
33	CTCF	chrX:31564407-31564469	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:31492207-31492272	GM20000	blood:	n/a	n/a
35	CTCF	chrX:31497830-31497876	GM10248	blood:	n/a	n/a
36	CTCF	chrX:31516558-31516608	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chrX:31525123-31525215	GM10248	blood:	n/a	n/a
38	CTCF	chrX:31515024-31515083	GM20000	blood:	n/a	n/a
39	CTCF	chrX:31540242-31540297	ProgFib	skin:	n/a	n/a
40	CTCF	chrX:31523373-31523454	GM10248	blood:	n/a	n/a
41	CTCF	chrX:31564260-31564410	AG10803	skin:	n/a	n/a
42	CTCF	chrX:31564382-31564434	NHEK	skin:	n/a	n/a
43	CTCF	chrX:31556852-31556936	GM10266	blood:	n/a	n/a
44	CTCF	chrX:31564330-31564426	Hela-S3	cervix:	n/a	n/a
45	CTCF	chrX:31556584-31556615	GM20000	blood:	n/a	n/a
46	CTCF	chrX:31504543-31504615	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chrX:31564260-31564410	HMEC	breast:	n/a	n/a
48	CTCF	chrX:31564383-31564436	Gliobla	brain:	n/a	n/a
49	CTCF	chrX:31505574-31505632	GM10248	blood:	n/a	n/a
50	CTCF	chrX:31508080-31508158	GM20000	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:31526531-31526581	A549	lung:	n/a
2	chrX:31526745-31526795	PrEC	prostate:	n/a
3	chrX:31526745-31526795	GM06990	blood:	n/a
4	chrX:31526531-31526581	PANC-1	pancreas:	n/a
5	chrX:31526745-31526795	HCPEpiC	choroid plexus:	n/a
6	chrX:31526745-31526795	SK-N-SH	brain:	n/a
7	chrX:31526745-31526795	CMK	blood:	n/a
8	chrX:31526531-31526581	HCT-116	colon:	n/a
9	chrX:31526745-31526795	AG04450	lung:	fetal
10	chrX:31526531-31526581	HepG2	liver:	n/a
11	chrX:31526745-31526795	Hela-S3	cervix:	n/a
12	chrX:31526745-31526795	A549	lung:	n/a
13	chrX:31526745-31526795	NB4	blood:	n/a
14	chrX:31526531-31526581	HMEC	breast:	n/a
15	chrX:31526745-31526795	HepG2	liver:	n/a
16	chrX:31526745-31526795	HAEpiC	amniotic membrane:	n/a
17	chrX:31526745-31526795	ovcar-3	ovarian:	n/a
18	chrX:31526745-31526795	AoSMC	blood vessel:	n/a
19	chrX:31526531-31526581	NHDF-neo	bronchial:	n/a
20	chrX:31526531-31526581	ovcar-3	ovarian:	n/a
21	chrX:31526531-31526581	AG10803	skin:	n/a
22	chrX:31526745-31526795	HUVEC	blood vessel:	n/a
23	chrX:31526745-31526795	HRE	kidney:	n/a
24	chrX:31526531-31526581	MCF10A-Er-Src	breast:	n/a
25	chrX:31526745-31526795	SAEC	small airway:	n/a
26	chrX:31526745-31526795	HCT-116	colon:	n/a
27	chrX:31526531-31526581	HL-60	blood:	n/a
28	chrX:31526531-31526581	GM06990	blood:	n/a
29	chrX:31526745-31526795	Caco-2	colon:	n/a
30	chrX:31526745-31526795	NH-A	brain:	n/a
31	chrX:31526745-31526795	MCF-7	breast:	n/a
32	chrX:31526531-31526581	K562	blood:	n/a
33	chrX:31526531-31526581	T-47D	breast:	n/a
34	chrX:31526745-31526795	AG09319	gingival:	n/a
35	chrX:31526745-31526795	NHBE	bronchial:	n/a
36	chrX:31526531-31526581	Hepatocyte	liver:	n/a
37	chrX:31526531-31526581	Jurkat	blood:	n/a
38	chrX:31526531-31526581	LNCaP	prostate:	n/a
39	chrX:31526531-31526581	PrEC	prostate:	n/a
40	chrX:31526745-31526795	SKMC	muscle:	n/a
41	chrX:31526745-31526795	HNPCEpiC	eye:	n/a
42	chrX:31526531-31526581	U87	brain:	n/a
43	chrX:31526531-31526581	BJ	skin:	n/a
44	chrX:31526745-31526795	GM12891	blood:	n/a
45	chrX:31526745-31526795	GM12878	blood:	n/a
46	chrX:31526531-31526581	RPTEC	kidney:	n/a
47	chrX:31526745-31526795	Jurkat	blood:	n/a
48	chrX:31526531-31526581	HRE	kidney:	n/a
49	chrX:31526531-31526581	AG09309	skin:	n/a
50	chrX:31526745-31526795	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:31479350..31481011-chrX:31523171..31525113,2	K562	blood:

No data

Variant related genes	Relation type
DMD	TF binding region
DMD	CpG island

Extended variants
information (count: 1191 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1191 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12009327	chrX:31491980-31491981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146886494	chrX:31492090-31492091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374220922	chrX:31492156-31492157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140648844	chrX:31492187-31492188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12014023	chrX:31492256-31492257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183175178	chrX:31492281-31492282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146565100	chrX:31492395-31492396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36050043	chrX:31492401-31492402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149164061	chrX:31492437-31492438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375080251	chrX:31492470-31492471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73212372	chrX:31492549-31492550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148295149	chrX:31492617-31492618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7891577	chrX:31492665-31492666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201882496	chrX:31492666-31492667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187539305	chrX:31492700-31492701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537449447	chrX:31492775-31492776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375957170	chrX:31492817-31492818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199960434	chrX:31492829-31492830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368834194	chrX:31492830-31492831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200432367	chrX:31492834-31492835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201057943	chrX:31492844-31492845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201772598	chrX:31492849-31492850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199778713	chrX:31492865-31492866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10551962	chrX:31492870-31492871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7891761	chrX:31492874-31492875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371291992	chrX:31492927-31492928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5927015	chrX:31492988-31492989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7892104	chrX:31493117-31493118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372874448	chrX:31493152-31493153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184124447	chrX:31493379-31493380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535668591	chrX:31493444-31493445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76687524	chrX:31493710-31493711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35040383	chrX:31493781-31493782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138215743	chrX:31493872-31493873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143588300	chrX:31493985-31493986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12689904	chrX:31494096-31494097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139592707	chrX:31494361-31494362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187476024	chrX:31494374-31494375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192778458	chrX:31494394-31494395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184673300	chrX:31494416-31494417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202026734	chrX:31494460-31494461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200254374	chrX:31494511-31494512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376560906	chrX:31494513-31494514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200497574	chrX:31494514-31494515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373498710	chrX:31494515-31494516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201445571	chrX:31494534-31494535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188739195	chrX:31494535-31494536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192066542	chrX:31494537-31494538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549067368	chrX:31494539-31494540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184205350	chrX:31494551-31494552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	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

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31486800-31495400	Weak transcription	Stomach Smooth Muscle	stomach
2	chrX:31488200-31497800	Weak transcription	Psoas Muscle	Psoas
3	chrX:31488200-31498400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chrX:31493400-31506400	Weak transcription	HSMMtube	muscle
5	chrX:31493600-31496000	Weak transcription	Left Ventricle	heart
6	chrX:31494000-31496600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chrX:31494800-31495600	Enhancers	HUVEC	blood vessel
8	chrX:31497000-31497600	Enhancers	Brain Germinal Matrix	brain
9	chrX:31499000-31499200	Enhancers	HMEC	breast
10	chrX:31499200-31500000	Weak transcription	HMEC	breast
11	chrX:31500000-31500800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chrX:31500000-31500800	Enhancers	HMEC	breast
13	chrX:31500800-31501800	Weak transcription	HMEC	breast
14	chrX:31501400-31503000	Enhancers	Muscle Satellite Cultured Cells	--
15	chrX:31501600-31502800	Enhancers	HUVEC	blood vessel
16	chrX:31501800-31502200	Enhancers	HSMM	muscle
17	chrX:31501800-31503000	Enhancers	NHEK	skin
18	chrX:31501800-31503200	Enhancers	HMEC	breast
19	chrX:31502000-31502600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chrX:31502000-31503200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chrX:31503000-31504600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chrX:31504600-31504800	Enhancers	Muscle Satellite Cultured Cells	--
23	chrX:31506400-31507200	Enhancers	HSMMtube	muscle
24	chrX:31507200-31515600	Weak transcription	HSMMtube	muscle
25	chrX:31507400-31507600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chrX:31513000-31526000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chrX:31513400-31515800	Weak transcription	Liver	Liver
28	chrX:31514200-31516600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chrX:31514800-31515200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chrX:31514800-31515200	Enhancers	NHLF	lung
31	chrX:31514800-31516200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chrX:31514800-31519400	Enhancers	HUVEC	blood vessel
33	chrX:31515000-31515200	Enhancers	Colon Smooth Muscle	Colon
34	chrX:31515000-31515400	Enhancers	Brain Anterior Caudate	brain
35	chrX:31515000-31515800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chrX:31515000-31515800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chrX:31515000-31515800	Enhancers	Hela-S3	cervix
38	chrX:31515000-31516000	Enhancers	HMEC	breast
39	chrX:31515000-31516200	Enhancers	Muscle Satellite Cultured Cells	--
40	chrX:31515200-31515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chrX:31515200-31515400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chrX:31515200-31515400	Enhancers	Osteobl	bone
43	chrX:31515200-31515600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chrX:31515200-31515800	Enhancers	NH-A	brain
45	chrX:31515200-31519000	Weak transcription	Colon Smooth Muscle	Colon
46	chrX:31515400-31515800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chrX:31515600-31515800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chrX:31515600-31515800	Enhancers	HSMMtube	muscle
49	chrX:31515600-31516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chrX:31515800-31516200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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