Variant report

Variant	nsv520140
Chromosome Location	chrX:78644267-78733378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:78733188..78733978-chrX:79285640..79286468,2	MCF-7	breast:
2	chr11:118881446..118882428-chrX:78719744..78720315,2	MCF-7	breast:
3	chrX:77811500..77813088-chrX:78666250..78667785,2	MCF-7	breast:
4	chr2:219180197..219181031-chrX:78672273..78672996,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000186166	chromatin interactions

Extended variants
information (count: 351 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:351 , 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	rs5912921	chrX:78647459-78647460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs5912922	chrX:78647460-78647461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs5912923	chrX:78647467-78647468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs5912924	chrX:78647472-78647473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372041267	chrX:78647596-78647597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190831372	chrX:78647805-78647806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141242080	chrX:78647831-78647832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374022797	chrX:78647846-78647847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5912926	chrX:78647911-78647912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183388153	chrX:78647933-78647934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143120918	chrX:78648073-78648074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138785042	chrX:78648116-78648117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141252995	chrX:78655612-78655613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs5959341	chrX:78655699-78655700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137999380	chrX:78655741-78655742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190088266	chrX:78655767-78655768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59648890	chrX:78655777-78655778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370305745	chrX:78655783-78655784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371580351	chrX:78655784-78655785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557460310	chrX:78655785-78655786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79930767	chrX:78655797-78655798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79109345	chrX:78655798-78655799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67515309	chrX:78655806-78655807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182374581	chrX:78655875-78655876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55962854	chrX:78655881-78655882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375425572	chrX:78655897-78655898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5959342	chrX:78655917-78655918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185707735	chrX:78656126-78656127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572925256	chrX:78656213-78656214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189496857	chrX:78656220-78656221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180768557	chrX:78656244-78656245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185383798	chrX:78656263-78656264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190194677	chrX:78656300-78656301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370996989	chrX:78656416-78656417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181398851	chrX:78656476-78656477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376279934	chrX:78656492-78656493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186956797	chrX:78656614-78656615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191752100	chrX:78656690-78656691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183715501	chrX:78656798-78656799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563215076	chrX:78656807-78656808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34585646	chrX:78656844-78656845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150620428	chrX:78656878-78656879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199875928	chrX:78656971-78656972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5959343	chrX:78657055-78657056	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs5959344	chrX:78657149-78657150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187553266	chrX:78657260-78657261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375234225	chrX:78657333-78657334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190972868	chrX:78657359-78657360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182090026	chrX:78657362-78657363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186772821	chrX:78657434-78657435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:78647400-78647600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
2	chrX:78647800-78648200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chrX:78655600-78656000	Enhancers	Primary T cells fromperipheralblood	blood
4	chrX:78655600-78656000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chrX:78655600-78656000	Enhancers	Fetal Thymus	thymus
6	chrX:78655800-78656200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chrX:78656000-78656400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chrX:78656000-78656600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chrX:78656000-78656600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chrX:78656000-78667200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chrX:78656200-78656600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chrX:78656200-78656600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chrX:78656400-78657200	Enhancers	Primary T cells from cord blood	blood
14	chrX:78656600-78656800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chrX:78656800-78659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chrX:78657200-78659000	Weak transcription	Primary T cells from cord blood	blood
17	chrX:78659000-78659200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chrX:78659000-78659400	Enhancers	Primary T cells from cord blood	blood
19	chrX:78659400-78664400	Weak transcription	Primary T cells from cord blood	blood
20	chrX:78661000-78664400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chrX:78663400-78663600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chrX:78663600-78664400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chrX:78664400-78664800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chrX:78664400-78664800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chrX:78664400-78665600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chrX:78664400-78667400	Enhancers	Primary T cells from cord blood	blood
27	chrX:78664600-78665400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chrX:78664800-78667800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chrX:78665000-78665400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chrX:78665000-78666800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chrX:78665200-78666000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chrX:78665400-78668000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chrX:78665400-78668400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chrX:78665600-78667400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chrX:78666000-78666800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chrX:78666800-78667000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chrX:78666800-78667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chrX:78666800-78667200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chrX:78667000-78668800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chrX:78667000-78668800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chrX:78667000-78668800	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chrX:78667200-78667600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chrX:78667200-78668800	Active TSS	Primary T cells fromperipheralblood	blood
44	chrX:78667200-78668800	Active TSS	Adipose Nuclei	Adipose
45	chrX:78667400-78667600	Active TSS	Primary T cells from cord blood	blood
46	chrX:78667400-78668400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chrX:78667600-78668200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chrX:78667600-78668400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chrX:78667800-78668200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chrX:78667800-78668200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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