Variant report

Variant	nsv521457
Chromosome Location	chrX:31580537-31634092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:31607664..31610419-chrX:31614245..31616179,2	K562	blood:
2	chrX:31589050..31591269-chrX:31593172..31595132,2	K562	blood:
3	chrX:31607664..31610419-chrX:31614245..31616179,2	K562	blood:
4	chrX:31589050..31591269-chrX:31593172..31595132,2	K562	blood:

Extended variants
information (count: 379 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1921955	chrX:31580537-31580538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367994856	chrX:31580621-31580622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185055115	chrX:31580626-31580627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189003829	chrX:31580694-31580695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181831934	chrX:31580821-31580822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200801025	chrX:31580831-31580832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137906702	chrX:31580833-31580834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4829226	chrX:31580929-31580930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370861805	chrX:31581003-31581004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201023069	chrX:31581035-31581036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7883159	chrX:31581071-31581072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545300507	chrX:31581074-31581075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139344773	chrX:31581116-31581117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184803215	chrX:31581130-31581131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10538343	chrX:31581171-31581172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201854951	chrX:31581187-31581188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386824605	chrX:31581188-31581189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543210202	chrX:31581189-31581190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200078468	chrX:31581191-31581192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372250790	chrX:31581192-31581193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7882499	chrX:31581326-31581327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188143689	chrX:31581435-31581436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375309368	chrX:31581473-31581474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181047219	chrX:31581533-31581534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186132898	chrX:31581660-31581661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191003126	chrX:31582097-31582098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181486067	chrX:31582151-31582152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73453980	chrX:31582374-31582375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190739095	chrX:31582394-31582395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183350435	chrX:31582476-31582477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149616592	chrX:31582875-31582876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5927018	chrX:31582896-31582897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140809881	chrX:31583200-31583201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186555187	chrX:31583213-31583214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192331177	chrX:31583321-31583322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144760204	chrX:31583528-31583529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182353696	chrX:31583537-31583538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115387357	chrX:31583554-31583555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112472911	chrX:31586255-31586256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373414050	chrX:31586311-31586312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377502394	chrX:31586568-31586569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190378974	chrX:31589824-31589825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182014311	chrX:31590030-31590031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113697408	chrX:31590031-31590032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554822857	chrX:31590080-31590081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187666057	chrX:31590086-31590087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143524948	chrX:31590204-31590205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190747727	chrX:31590240-31590241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146721894	chrX:31590275-31590276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542852541	chrX:31590353-31590354	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Duchenne and Becker muscular dystrophies	18663755	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31574000-31583600	Weak transcription	Fetal Heart	heart
2	chrX:31581800-31582600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chrX:31586200-31586600	Enhancers	Fetal Intestine Large	intestine
4	chrX:31589800-31591600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chrX:31590400-31591200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chrX:31590400-31591400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chrX:31590600-31591200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chrX:31598200-31599400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chrX:31598200-31599400	Enhancers	NHDF-Ad	bronchial
10	chrX:31598200-31599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chrX:31598200-31599600	Enhancers	HMEC	breast
12	chrX:31598200-31599600	Enhancers	NHEK	skin
13	chrX:31598200-31599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chrX:31598400-31598800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chrX:31598400-31599000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chrX:31598400-31599400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chrX:31598400-31599600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chrX:31598400-31599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chrX:31598400-31599600	Enhancers	HSMM	muscle
20	chrX:31598400-31599600	Enhancers	NH-A	brain
21	chrX:31598400-31600000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:31598600-31598800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chrX:31598600-31599600	Enhancers	HUVEC	blood vessel
24	chrX:31598600-31599600	Enhancers	Osteobl	bone
25	chrX:31598600-31599800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chrX:31598800-31599000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chrX:31598800-31599200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chrX:31598800-31599400	Enhancers	Hela-S3	cervix
29	chrX:31598800-31599600	Enhancers	Muscle Satellite Cultured Cells	--
30	chrX:31599000-31599200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chrX:31599200-31599400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chrX:31599200-31599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chrX:31599400-31599600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chrX:31599400-31601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chrX:31599600-31601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chrX:31599600-31601200	Weak transcription	HMEC	breast
37	chrX:31599600-31606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chrX:31599600-31606400	Weak transcription	NHEK	skin
39	chrX:31599800-31603600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chrX:31600000-31603800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chrX:31600600-31601400	Enhancers	HSMMtube	muscle
42	chrX:31601000-31601600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chrX:31601200-31601400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chrX:31601200-31601600	Enhancers	HMEC	breast
45	chrX:31601600-31606000	Weak transcription	HMEC	breast
46	chrX:31603600-31604000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chrX:31603800-31604000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chrX:31604000-31607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chrX:31606000-31607800	Enhancers	HMEC	breast
50	chrX:31606200-31607200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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