Variant report

Variant	nsv819662
Chromosome Location	chr8:50115746-50122871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50114787..50117721-chr8:50120524..50123676,3	K562	blood:
2	chr8:50122009..50123670-chr8:50128301..50129864,2	K562	blood:
3	chr8:50114787..50117721-chr8:50120524..50123676,3	K562	blood:
4	chr8:50104222..50107867-chr8:50114217..50118175,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-2	chr8:50118940-50119026	NONHSAT126506

Extended variants
information (count: 231 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543598627	chr8:50118217-50118218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562041458	chr8:50118238-50118239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560764170	chr8:50118254-50118255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548467097	chr8:50118256-50118257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35897910	chr8:50118274-50118275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527445192	chr8:50118277-50118278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35347194	chr8:50118306-50118307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35435104	chr8:50118367-50118368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568597300	chr8:50118372-50118373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115897748	chr8:50118376-50118377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541342338	chr8:50118377-50118378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182475704	chr8:50118387-50118388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189190570	chr8:50118430-50118431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376516849	chr8:50118470-50118471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34912035	chr8:50118485-50118486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373736351	chr8:50118491-50118492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572708968	chr8:50118507-50118508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7012516	chr8:50118527-50118528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs551715121	chr8:50118563-50118564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576588363	chr8:50118599-50118600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543918205	chr8:50118607-50118608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35333021	chr8:50118608-50118609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529275124	chr8:50118621-50118622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541438517	chr8:50118648-50118649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546231581	chr8:50118666-50118667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560145071	chr8:50118749-50118750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13268333	chr8:50118775-50118776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs13277014	chr8:50118816-50118817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372543167	chr8:50118831-50118832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13266232	chr8:50118832-50118833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534120761	chr8:50118859-50118860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549438183	chr8:50118873-50118874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13277298	chr8:50118919-50118920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535044053	chr8:50118921-50118922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546980660	chr8:50118940-50118941	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529896489	chr8:50118967-50118968	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs565585369	chr8:50118973-50118974	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs193082001	chr8:50118977-50118978	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs540475274	chr8:50119001-50119002	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs183846685	chr8:50119013-50119014	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs560025768	chr8:50119034-50119035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576544646	chr8:50119056-50119057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368153731	chr8:50119066-50119067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537661740	chr8:50119078-50119079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75107718	chr8:50119101-50119102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35892058	chr8:50119159-50119160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556547127	chr8:50119232-50119233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144784761	chr8:50119267-50119268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559679852	chr8:50119278-50119279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577987173	chr8:50119284-50119285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50118200-50118400	Enhancers	Pancreas	Pancrea
2	chr8:50118200-50118600	Enhancers	GM12878-XiMat	blood
3	chr8:50118400-50119400	Enhancers	Stomach Mucosa	stomach
4	chr8:50118400-50122200	Weak transcription	Pancreas	Pancrea
5	chr8:50119400-50122200	Weak transcription	Stomach Mucosa	stomach
6	chr8:50120600-50121400	Enhancers	K562	blood
7	chr8:50121400-50124800	Weak transcription	K562	blood
8	chr8:50122200-50122600	ZNF genes & repeats	Pancreas	Pancrea
9	chr8:50122200-50123200	Enhancers	Stomach Mucosa	stomach
10	chr8:50122400-50123200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:50122400-50123800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:50122800-50123600	Enhancers	HUES64 Cell Line	embryonic stem cell

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