Variant report

Variant	nsv611954
Chromosome Location	chr8:114758203-114817903
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	chr8:114816422..114818283-chr8:114819579..114821682,2	K562	blood:

Extended variants
information (count: 490 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554552288	chr8:114773426-114773427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35368068	chr8:114773540-114773541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575052648	chr8:114773575-114773576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534106624	chr8:114773593-114773594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191359072	chr8:114773613-114773614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149530951	chr8:114773645-114773646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539155171	chr8:114773665-114773666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544052388	chr8:114773673-114773674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556177366	chr8:114773681-114773682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73704310	chr8:114773712-114773713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535395708	chr8:114773714-114773715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3911267	chr8:114773729-114773730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574772552	chr8:114773766-114773767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540560644	chr8:114773770-114773771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560306026	chr8:114773773-114773774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200558187	chr8:114773779-114773780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183172808	chr8:114773813-114773814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568162755	chr8:114773826-114773827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187855441	chr8:114773895-114773896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144181382	chr8:114773899-114773900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115718889	chr8:114773900-114773901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190796765	chr8:114773901-114773902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148084774	chr8:114773958-114773959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183097227	chr8:114773986-114773987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187822496	chr8:114773997-114773998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28450774	chr8:114774005-114774006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28685235	chr8:114774018-114774019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191979307	chr8:114774026-114774027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28529276	chr8:114774030-114774031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141863940	chr8:114774031-114774032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72472058	chr8:114774078-114774079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373006846	chr8:114774125-114774126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535224671	chr8:114774136-114774137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147259320	chr8:114774154-114774155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565380390	chr8:114774165-114774166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140826508	chr8:114774212-114774213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554000254	chr8:114774213-114774214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114961429	chr8:114774220-114774221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530570122	chr8:114774243-114774244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148407325	chr8:114774244-114774245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184268882	chr8:114774249-114774250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79362076	chr8:114774278-114774279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375503259	chr8:114774291-114774292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556504724	chr8:114774328-114774329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576464657	chr8:114774349-114774350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs207469762	chr8:114774368-114774369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188524346	chr8:114774374-114774375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11996026	chr8:114774378-114774379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527636322	chr8:114774408-114774409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371937763	chr8:114774490-114774491	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114773400-114775200	Enhancers	Dnd41	blood
2	chr8:114775400-114776000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:114796000-114796400	Enhancers	Dnd41	blood
4	chr8:114796400-114798400	Weak transcription	Dnd41	blood
5	chr8:114798400-114799000	Enhancers	Dnd41	blood
6	chr8:114799000-114799400	Flanking Active TSS	Dnd41	blood
7	chr8:114799400-114799800	Enhancers	Dnd41	blood
8	chr8:114799800-114800800	Flanking Active TSS	Dnd41	blood
9	chr8:114800600-114801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:114800800-114801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:114800800-114802600	Enhancers	Dnd41	blood
12	chr8:114802600-114802800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:114802600-114803400	ZNF genes & repeats	Dnd41	blood
14	chr8:114802800-114803400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:114802800-114803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:114803400-114803600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:114803400-114804400	Weak transcription	Dnd41	blood
18	chr8:114804400-114805200	Enhancers	Dnd41	blood
19	chr8:114805600-114806000	Active TSS	Aorta	Aorta
20	chr8:114812800-114813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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