Variant report

Variant	nsv465759
Chromosome Location	chr8:107948846-107993651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
2	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
3	chr8:107942969..107944882-chr8:107947397..107950268,2	MCF-7	breast:
4	chr8:107992879..107994414-chr8:107998653..108000399,2	MCF-7	breast:
5	chr8:107963274..107965164-chr8:107984156..107985885,2	K562	blood:
6	chr8:107963274..107965164-chr8:107984156..107985885,2	K562	blood:
7	chr8:107858296..107858832-chr8:107965934..107966511,2	MCF-7	breast:

Extended variants
information (count: 1724 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1724 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16875341	chr8:107948846-107948847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146218620	chr8:107948878-107948879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187249072	chr8:107948909-107948910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72686510	chr8:107948971-107948972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35814120	chr8:107949014-107949015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570103315	chr8:107949020-107949021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537594342	chr8:107949081-107949082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552884419	chr8:107949145-107949146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538993250	chr8:107949181-107949182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138995890	chr8:107949182-107949183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74364665	chr8:107949214-107949215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4734143	chr8:107949229-107949230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554789859	chr8:107949271-107949272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577804061	chr8:107949279-107949280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533935207	chr8:107949280-107949281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149459144	chr8:107949328-107949329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533951736	chr8:107949375-107949376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567744372	chr8:107949380-107949381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111966053	chr8:107949439-107949440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577310317	chr8:107949443-107949444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191691328	chr8:107949444-107949445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115297158	chr8:107949445-107949446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74893772	chr8:107949451-107949452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77042782	chr8:107949452-107949453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574703969	chr8:107949455-107949456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143909735	chr8:107949467-107949468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112128896	chr8:107949504-107949505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559998862	chr8:107949505-107949506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527420970	chr8:107949523-107949524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551982944	chr8:107949555-107949556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563766894	chr8:107949586-107949587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531192274	chr8:107949660-107949661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181620754	chr8:107949670-107949671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148793954	chr8:107949689-107949690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536450931	chr8:107949700-107949701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369601179	chr8:107949759-107949760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62515166	chr8:107949826-107949827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114913317	chr8:107949851-107949852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559605071	chr8:107949869-107949870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186383317	chr8:107949946-107949947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577322701	chr8:107949967-107949968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368822226	chr8:107949983-107949984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538211799	chr8:107950012-107950013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556498017	chr8:107950050-107950051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190069350	chr8:107950060-107950061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541748276	chr8:107950079-107950080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16875342	chr8:107950158-107950159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572125752	chr8:107950258-107950259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116922173	chr8:107950352-107950353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563805042	chr8:107950433-107950434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107938200-107951400	Weak transcription	NHLF	lung
2	chr8:107947400-107952000	Weak transcription	Aorta	Aorta
3	chr8:107947800-107951200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:107947800-107951200	Weak transcription	NHDF-Ad	bronchial
5	chr8:107948000-107951400	Weak transcription	A549	lung
6	chr8:107951200-107951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:107951200-107952200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:107951200-107952200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:107951200-107952200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:107951200-107952200	Enhancers	NHDF-Ad	bronchial
11	chr8:107951200-107952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:107951200-107952400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:107951200-107952400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:107951200-107952400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:107951200-107952400	Enhancers	HMEC	breast
16	chr8:107951200-107952400	Enhancers	NHEK	skin
17	chr8:107951200-107952400	Enhancers	Osteobl	bone
18	chr8:107951200-107952600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:107951200-107952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:107951400-107951800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:107951400-107952200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:107951400-107952200	Enhancers	NHLF	lung
23	chr8:107951400-107952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:107951400-107952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:107951400-107952400	Enhancers	A549	lung
26	chr8:107951400-107952400	Enhancers	HSMM	muscle
27	chr8:107951400-107952400	Enhancers	NH-A	brain
28	chr8:107952000-107952400	Enhancers	Aorta	Aorta
29	chr8:107952400-107953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:107952400-107953400	Weak transcription	NHEK	skin
31	chr8:107952400-107955200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:107952400-107955800	Weak transcription	Osteobl	bone
33	chr8:107952400-107957400	Weak transcription	Aorta	Aorta
34	chr8:107952600-107958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:107952800-107953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:107953200-107954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:107953400-107953600	Enhancers	NHEK	skin
38	chr8:107953400-107954000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:107954000-107959000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:107954400-107959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:107955200-107956400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:107955800-107956400	Enhancers	Osteobl	bone
43	chr8:107956000-107956200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:107956200-107956400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:107956800-107957200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:107957400-107957600	Genic enhancers	Aorta	Aorta
47	chr8:107957400-107957800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:107957600-107957800	Enhancers	Aorta	Aorta
49	chr8:107957800-107959200	Weak transcription	Aorta	Aorta
50	chr8:107958800-107960000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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