Variant report

Variant	nsv429937
Chromosome Location	chr8:120353819-120365819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120361328..120364050-chr8:120365254..120366960,2	K562	blood:
2	chr8:120361328..120363061-chr8:120365460..120367598,2	K562	blood:
3	chr8:120361328..120363061-chr8:120365460..120367598,2	K562	blood:
4	chr8:120364256..120366080-chr8:120367692..120369554,2	K562	blood:
5	chr1:16931501..16933365-chr8:120352686..120354205,2	MCF-7	breast:
6	chr8:120276196..120276919-chr8:120365000..120365869,2	MCF-7	breast:
7	chr8:120361328..120364050-chr8:120365254..120366960,2	K562	blood:

Extended variants
information (count: 465 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:465 , 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	rs554570991	chr8:120353882-120353883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35508789	chr8:120353909-120353910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201621961	chr8:120353918-120353919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369810213	chr8:120353921-120353922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78517799	chr8:120353942-120353943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200585044	chr8:120353968-120353969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146108209	chr8:120353969-120353970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529276278	chr8:120353983-120353984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2447182	chr8:120353984-120353985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs563177092	chr8:120353996-120353997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2469998	chr8:120354022-120354023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76428171	chr8:120354045-120354046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567033916	chr8:120354056-120354057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533687857	chr8:120354060-120354061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549055717	chr8:120354062-120354063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567197291	chr8:120354132-120354133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537452145	chr8:120354150-120354151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540838844	chr8:120354216-120354217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114616927	chr8:120354268-120354269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2447181	chr8:120354288-120354289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545585116	chr8:120354325-120354326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538516337	chr8:120354398-120354399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551112163	chr8:120354442-120354443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556139665	chr8:120354465-120354466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574700550	chr8:120354503-120354504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189046991	chr8:120354522-120354523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572190425	chr8:120354544-120354545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540412407	chr8:120354581-120354582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562206589	chr8:120354596-120354597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72684250	chr8:120354604-120354605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371691802	chr8:120354605-120354606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140302253	chr8:120354638-120354639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2469999	chr8:120354695-120354696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533697638	chr8:120354699-120354700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546317116	chr8:120354739-120354740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16892346	chr8:120354750-120354751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78309285	chr8:120354762-120354763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527883562	chr8:120354770-120354771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549263802	chr8:120354837-120354838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149314514	chr8:120354920-120354921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144591793	chr8:120354921-120354922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549387057	chr8:120355007-120355008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570887938	chr8:120355018-120355019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538581334	chr8:120355113-120355114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554025029	chr8:120355114-120355115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572191246	chr8:120355145-120355146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374777504	chr8:120355176-120355177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536447250	chr8:120355186-120355187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77305431	chr8:120355204-120355205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559884960	chr8:120355207-120355208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
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
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	17603634	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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120349600-120375000	Weak transcription	Aorta	Aorta
2	chr8:120355200-120355400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:120355400-120356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:120356200-120357000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:120357000-120357200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:120357200-120358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:120357400-120358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:120358400-120361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:120358600-120359800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:120361000-120362000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:120362000-120362200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:120364200-120364600	Enhancers	Fetal Muscle Leg	muscle
13	chr8:120364600-120365800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:120364800-120366400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:120365800-120366200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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