Variant report

Variant	nsv397388
Chromosome Location	chr8:107432988-107442256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107434524..107437041-chr8:107438558..107440145,2	K562	blood:
2	chr8:107425582..107427133-chr8:107435679..107438329,2	K562	blood:
3	chr8:107434524..107437041-chr8:107438558..107440145,2	K562	blood:

Extended variants
information (count: 292 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531703221	chr8:107433034-107433035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571849538	chr8:107433137-107433138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116219470	chr8:107433151-107433152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117654747	chr8:107433157-107433158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115408105	chr8:107433163-107433164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138743380	chr8:107433188-107433189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536602770	chr8:107433221-107433222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554541833	chr8:107433247-107433248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572934714	chr8:107433316-107433317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185385182	chr8:107433325-107433326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141560722	chr8:107433335-107433336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191171666	chr8:107433336-107433337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544083502	chr8:107433359-107433360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150292831	chr8:107433383-107433384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182544532	chr8:107433400-107433401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138002923	chr8:107433405-107433406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373737663	chr8:107433416-107433417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149482738	chr8:107433440-107433441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527314714	chr8:107433448-107433449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189254854	chr8:107433454-107433455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561987105	chr8:107433466-107433467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2022969	chr8:107433493-107433494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550107381	chr8:107433554-107433555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569953508	chr8:107433572-107433573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193013706	chr8:107433612-107433613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78482487	chr8:107433627-107433628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114819958	chr8:107433665-107433666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115754225	chr8:107433743-107433744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554202237	chr8:107433750-107433751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183077691	chr8:107433831-107433832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2022968	chr8:107433832-107433833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577063988	chr8:107433888-107433889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148627218	chr8:107433991-107433992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552245070	chr8:107434007-107434008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544539880	chr8:107434021-107434022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370112816	chr8:107434024-107434025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11273791	chr8:107434027-107434028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76572571	chr8:107434028-107434029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112644813	chr8:107434045-107434046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6983162	chr8:107434053-107434054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187410653	chr8:107434097-107434098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565871245	chr8:107434120-107434121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140928642	chr8:107434123-107434124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527248014	chr8:107434137-107434138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545823659	chr8:107434147-107434148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565526844	chr8:107434183-107434184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536612659	chr8:107434391-107434392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551299006	chr8:107434399-107434400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569328728	chr8:107434419-107434420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558840011	chr8:107434426-107434427	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
small cell lung cancer	20016488	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107404400-107447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107411600-107439200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:107414600-107446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:107427400-107435200	Weak transcription	Aorta	Aorta
5	chr8:107428800-107433400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:107433400-107434000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:107435200-107435400	Enhancers	Aorta	Aorta
8	chr8:107441000-107447200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:107441200-107441600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:107441200-107441600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:107441600-107447000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:107442000-107446800	Weak transcription	Primary T cells from cord blood	blood

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