Variant report

Variant	nsv891337
Chromosome Location	chr8:114776941-114882527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114854128..114856443-chr8:114857146..114858735,2	MCF-7	breast:
2	chr8:114816422..114818283-chr8:114819579..114821682,2	K562	blood:
3	chr8:114816422..114818283-chr8:114819579..114821682,2	K562	blood:
4	chr8:114823206..114825087-chr8:114825819..114828055,2	MCF-7	breast:
5	chr8:114823206..114825087-chr8:114825819..114828055,2	MCF-7	breast:
6	chr8:114854128..114856443-chr8:114857146..114858735,2	MCF-7	breast:

Extended variants
information (count: 460 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:460 , 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	rs553110763	chr8:114796004-114796005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573003097	chr8:114796016-114796017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34034296	chr8:114796023-114796024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs193195423	chr8:114796037-114796038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575578075	chr8:114796113-114796114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544566665	chr8:114796244-114796245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73351796	chr8:114796255-114796256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529978235	chr8:114796295-114796296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569006789	chr8:114796302-114796303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376344669	chr8:114796309-114796310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546821638	chr8:114796334-114796335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544637517	chr8:114796398-114796399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182921198	chr8:114796400-114796401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532333930	chr8:114796406-114796407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188373856	chr8:114796409-114796410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137937017	chr8:114796413-114796414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143509175	chr8:114796452-114796453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538378604	chr8:114796553-114796554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537462992	chr8:114796567-114796568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534399888	chr8:114796623-114796624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147177860	chr8:114796655-114796656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536500263	chr8:114796656-114796657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115600986	chr8:114796740-114796741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573137313	chr8:114796766-114796767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140505733	chr8:114796807-114796808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191850808	chr8:114796812-114796813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558805191	chr8:114796867-114796868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575660689	chr8:114796909-114796910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369534992	chr8:114796931-114796932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575419910	chr8:114796944-114796945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554959167	chr8:114797080-114797081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141629052	chr8:114797081-114797082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565653917	chr8:114797093-114797094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112501054	chr8:114797105-114797106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36015790	chr8:114797161-114797162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183660814	chr8:114797167-114797168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34268391	chr8:114797171-114797172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79486925	chr8:114797200-114797201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376196652	chr8:114797205-114797206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188316898	chr8:114797248-114797249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370595690	chr8:114797263-114797264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149720567	chr8:114797296-114797297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545950119	chr8:114797386-114797387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562457084	chr8:114797434-114797435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34352520	chr8:114797445-114797446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547879825	chr8:114797480-114797481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192351733	chr8:114797492-114797493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537032900	chr8:114797579-114797580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546919036	chr8:114797614-114797615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574016709	chr8:114797648-114797649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114796000-114796400	Enhancers	Dnd41	blood
2	chr8:114796400-114798400	Weak transcription	Dnd41	blood
3	chr8:114798400-114799000	Enhancers	Dnd41	blood
4	chr8:114799000-114799400	Flanking Active TSS	Dnd41	blood
5	chr8:114799400-114799800	Enhancers	Dnd41	blood
6	chr8:114799800-114800800	Flanking Active TSS	Dnd41	blood
7	chr8:114800600-114801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:114800800-114801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:114800800-114802600	Enhancers	Dnd41	blood
10	chr8:114802600-114802800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:114802600-114803400	ZNF genes & repeats	Dnd41	blood
12	chr8:114802800-114803400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:114802800-114803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:114803400-114803600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:114803400-114804400	Weak transcription	Dnd41	blood
16	chr8:114804400-114805200	Enhancers	Dnd41	blood
17	chr8:114805600-114806000	Active TSS	Aorta	Aorta
18	chr8:114812800-114813000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:114870200-114870400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
20	chr8:114879000-114880200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:114879200-114880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:114879600-114880000	Enhancers	Dnd41	blood
23	chr8:114879600-114880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:114881400-114882200	Enhancers	HUVEC	blood vessel

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