Variant report

Variant	nsv611963
Chromosome Location	chr8:115068851-115184664
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	chr8:114478442..114479179-chr8:115103168..115103714,3	MCF-7	breast:
2	chr3:133848002..133849522-chr8:115073919..115075439,2	K562	blood:

Extended variants
information (count: 1501 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1501 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146245303	chr8:115069706-115069707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190268899	chr8:115069734-115069735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10100392	chr8:115069769-115069770	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76763169	chr8:115069770-115069771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574416504	chr8:115069774-115069775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552756684	chr8:115069796-115069797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs139410568	chr8:115069928-115069929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559927146	chr8:115069934-115069935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs142737743	chr8:115069939-115069940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114524293	chr8:115069940-115069941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182152400	chr8:115070070-115070071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs151244487	chr8:115070123-115070124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62540735	chr8:115070148-115070149	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531922507	chr8:115070151-115070152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186203376	chr8:115070173-115070174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs190873196	chr8:115070197-115070198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183927235	chr8:115070198-115070199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188823628	chr8:115070263-115070264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75978815	chr8:115070301-115070302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191979776	chr8:115070304-115070305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs368070479	chr8:115070383-115070384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140461681	chr8:115070437-115070438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10103880	chr8:115070438-115070439	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10090734	chr8:115070456-115070457	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537918055	chr8:115070469-115070470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554548131	chr8:115070524-115070525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568075354	chr8:115070594-115070595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533876643	chr8:115070608-115070609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs4329300	chr8:115070619-115070620	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs183166960	chr8:115070652-115070653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564105658	chr8:115070701-115070702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs545663776	chr8:115070728-115070729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10091091	chr8:115070737-115070738	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376742017	chr8:115070796-115070797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576227191	chr8:115070808-115070809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187094268	chr8:115070833-115070834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113932641	chr8:115070886-115070887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536550445	chr8:115070898-115070899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541905214	chr8:115070899-115070900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370249987	chr8:115070900-115070901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561707420	chr8:115070917-115070918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs567773132	chr8:115070949-115070950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536041933	chr8:115070990-115070991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550038639	chr8:115071033-115071034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191864631	chr8:115071047-115071048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560605183	chr8:115071051-115071052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs532805121	chr8:115071072-115071073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552517053	chr8:115071083-115071084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569389677	chr8:115071084-115071085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184857971	chr8:115071130-115071131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Renal cell carcinoma	21215367	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115069600-115072000	ZNF genes & repeats	Dnd41	blood
2	chr8:115076600-115077200	ZNF genes & repeats	Dnd41	blood
3	chr8:115077200-115077400	Weak transcription	Dnd41	blood
4	chr8:115077400-115083000	Enhancers	Dnd41	blood
5	chr8:115080600-115081200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:115080600-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:115080800-115081200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:115080800-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:115081200-115081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:115081200-115086400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:115081400-115086400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:115081400-115089200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:115083000-115084600	Weak transcription	Dnd41	blood
14	chr8:115084600-115091000	Enhancers	Dnd41	blood
15	chr8:115085600-115087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:115086400-115086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:115086400-115087000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:115086800-115089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:115087000-115089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:115087400-115088200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:115087600-115087800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:115087600-115089800	Enhancers	Primary T cells from cord blood	blood
23	chr8:115088200-115089200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:115089000-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:115089200-115089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:115089200-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:115089600-115090000	Enhancers	Fetal Thymus	thymus
30	chr8:115091000-115096200	Weak transcription	Dnd41	blood
31	chr8:115096000-115096800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:115096200-115097600	Enhancers	Dnd41	blood
33	chr8:115096400-115097000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:115096800-115097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:115097600-115098000	Weak transcription	Dnd41	blood
36	chr8:115098000-115098800	Enhancers	Dnd41	blood
37	chr8:115098800-115102200	Weak transcription	Dnd41	blood
38	chr8:115102200-115103800	Enhancers	Dnd41	blood
39	chr8:115103400-115103600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:115103800-115104200	Weak transcription	Dnd41	blood
41	chr8:115104200-115105000	Enhancers	Dnd41	blood
42	chr8:115105200-115105600	Enhancers	Hela-S3	cervix
43	chr8:115105400-115105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:115105400-115106000	Enhancers	NH-A	brain
45	chr8:115109000-115110000	Enhancers	Dnd41	blood
46	chr8:115112600-115112800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:115112800-115115400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:115115400-115115600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:115115400-115116000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:115115400-115116200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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