Variant report

Variant	nsv1034285
Chromosome Location	chr8:114227114-114278041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114228732..114230731-chr8:114233226..114235418,2	MCF-7	breast:
2	chr8:114228732..114230731-chr8:114233226..114235418,2	MCF-7	breast:
3	chr8:114229145..114230999-chr8:114232153..114234565,2	K562	blood:
4	chr8:114229145..114230999-chr8:114232153..114234565,2	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs553299983	chr8:114228425-114228426	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs185356362	chr8:114228449-114228450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550861021	chr8:114228461-114228462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34010372	chr8:114228495-114228496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190121668	chr8:114228535-114228536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573177172	chr8:114228584-114228585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541767583	chr8:114228586-114228587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572893909	chr8:114228607-114228608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538797163	chr8:114228646-114228647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372963861	chr8:114228653-114228654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575386790	chr8:114228694-114228695	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74935196	chr8:114228737-114228738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551158834	chr8:114229015-114229016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75410744	chr8:114229021-114229022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536591648	chr8:114229023-114229024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546888462	chr8:114229058-114229059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566557467	chr8:114229063-114229064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568342175	chr8:114229095-114229096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76990629	chr8:114229128-114229129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367915872	chr8:114229170-114229171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142069456	chr8:114244427-114244428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72687671	chr8:114244489-114244490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540913152	chr8:114244491-114244492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150736923	chr8:114244516-114244517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569305647	chr8:114244543-114244544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535224284	chr8:114244572-114244573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371744876	chr8:114244603-114244604	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139093436	chr8:114244649-114244650	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565605497	chr8:114244664-114244665	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145190802	chr8:114244709-114244710	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554363012	chr8:114244733-114244734	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561186923	chr8:114244748-114244749	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577623797	chr8:114244787-114244788	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540130039	chr8:114244828-114244829	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147612018	chr8:114244883-114244884	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184992709	chr8:114244915-114244916	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541821933	chr8:114244919-114244920	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562231069	chr8:114244943-114244944	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544764965	chr8:114244947-114244948	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34982669	chr8:114244958-114244959	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78135522	chr8:114244962-114244963	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200010344	chr8:114245010-114245011	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549640917	chr8:114245038-114245039	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562980305	chr8:114245042-114245043	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs67088257	chr8:114245080-114245081	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142219225	chr8:114245095-114245096	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116331944	chr8:114245112-114245113	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189155618	chr8:114245127-114245128	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548054383	chr8:114245149-114245150	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs144496189	chr8:114245175-114245176	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114228400-114228800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:114229000-114229200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:114244400-114244600	Enhancers	Dnd41	blood
4	chr8:114244600-114245200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:114244600-114245200	Flanking Active TSS	Dnd41	blood
6	chr8:114244800-114245000	Enhancers	Fetal Kidney	kidney
7	chr8:114245200-114246600	Enhancers	Dnd41	blood
8	chr8:114250800-114251200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:114250800-114251400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:114251000-114251400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:114251000-114251400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:114272000-114274400	Weak transcription	Brain Cingulate Gyrus	brain

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