Variant report

Variant	nsv1030462
Chromosome Location	chr8:115227867-115250916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:115239390..115241790-chr8:115242578..115244996,2	K562	blood:
2	chr8:115239390..115241790-chr8:115242578..115244996,2	K562	blood:

Extended variants
information (count: 303 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560096475	chr8:115229632-115229633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117159604	chr8:115229648-115229649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17631764	chr8:115229697-115229698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181238464	chr8:115229718-115229719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16885580	chr8:115229759-115229760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550226529	chr8:115229790-115229791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571743067	chr8:115229814-115229815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532670486	chr8:115229841-115229842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186744005	chr8:115229879-115229880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566137574	chr8:115229940-115229941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536890825	chr8:115229978-115229979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548585424	chr8:115230013-115230014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188057514	chr8:115230053-115230054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376127012	chr8:115230085-115230086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180961428	chr8:115230122-115230123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144639117	chr8:115230160-115230161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146697062	chr8:115230224-115230225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148863658	chr8:115230256-115230257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374589832	chr8:115230314-115230315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572140254	chr8:115230349-115230350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542844541	chr8:115230378-115230379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558133369	chr8:115230394-115230395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545568802	chr8:115230482-115230483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143576570	chr8:115230521-115230522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543805279	chr8:115230551-115230552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565291418	chr8:115230555-115230556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148058720	chr8:115230562-115230563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547563110	chr8:115230563-115230564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559831966	chr8:115230602-115230603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185149889	chr8:115230611-115230612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530210111	chr8:115230684-115230685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17704523	chr8:115230720-115230721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17631819	chr8:115230793-115230794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537356168	chr8:115230839-115230840	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571310474	chr8:115230845-115230846	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114244879	chr8:115230860-115230861	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538670297	chr8:115230874-115230875	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141807050	chr8:115230880-115230881	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534093817	chr8:115230883-115230884	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572137325	chr8:115230888-115230889	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17631843	chr8:115230950-115230951	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563745734	chr8:115230976-115230977	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572558255	chr8:115243227-115243228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533642145	chr8:115243254-115243255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192294458	chr8:115243256-115243257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573730309	chr8:115243260-115243261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544415556	chr8:115243267-115243268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372010694	chr8:115243300-115243301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562605703	chr8:115243310-115243311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577875786	chr8:115243321-115243322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115229600-115230800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:115230400-115231000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:115230800-115231000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:115243200-115252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:115248600-115249200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:115249000-115249600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:115249000-115252600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:115249600-115252800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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