Variant report

Variant	nsv1030832
Chromosome Location	chr8:78721006-78806136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:31039728..31040439-chr8:78741209..78742131,2	HCT-116	colon:
2	chr8:78768514..78770860-chr8:78814182..78816443,2	K562	blood:
3	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145498111	chr8:78729235-78729236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571906942	chr8:78729257-78729258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535146652	chr8:78729272-78729273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141131455	chr8:78729306-78729307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551165119	chr8:78729308-78729309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144986931	chr8:78729324-78729325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147652836	chr8:78729352-78729353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554212589	chr8:78729372-78729373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182994242	chr8:78729406-78729407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533777598	chr8:78729439-78729440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558617390	chr8:78729476-78729477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61252999	chr8:78729493-78729494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186266282	chr8:78729537-78729538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142273491	chr8:78729560-78729561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562693630	chr8:78729578-78729579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72671208	chr8:78732808-78732809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535510489	chr8:78732868-78732869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553888961	chr8:78732880-78732881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549380491	chr8:78732904-78732905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112854552	chr8:78732914-78732915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539764757	chr8:78732927-78732928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558407351	chr8:78732928-78732929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190749266	chr8:78732933-78732934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544020018	chr8:78732936-78732937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555544948	chr8:78732984-78732985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371558239	chr8:78732992-78732993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541088906	chr8:78733066-78733067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572132312	chr8:78733067-78733068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111288735	chr8:78733072-78733073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532921891	chr8:78733090-78733091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147557305	chr8:78733101-78733102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140258994	chr8:78733117-78733118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530664963	chr8:78733124-78733125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535001492	chr8:78733143-78733144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs36115529	chr8:78733156-78733157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2222265	chr8:78733191-78733192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs180764862	chr8:78733211-78733212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73235740	chr8:78733306-78733307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565966791	chr8:78733360-78733361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539803518	chr8:78733390-78733391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186145590	chr8:78733405-78733406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570358171	chr8:78733441-78733442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35270057	chr8:78733455-78733456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556014590	chr8:78733472-78733473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574260482	chr8:78733484-78733485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532844309	chr8:78733488-78733489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149750388	chr8:78733495-78733496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551467235	chr8:78733526-78733527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145591918	chr8:78733565-78733566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189946201	chr8:78733602-78733603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78729200-78729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:78732800-78733600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:78733600-78734200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:78734200-78734400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:78742200-78742600	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:78772000-78773800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:78772200-78772400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:78772200-78772400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:78772400-78773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:78772400-78773400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:78773400-78773800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:78773400-78774000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:78773400-78774200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:78773800-78774000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:78774000-78780000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:78778000-78778800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:78780800-78781000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:78792400-78792600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:78795000-78795600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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