Variant report

Variant	nsv442530
Chromosome Location	chr8:130142678-130144526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130144005..130147540-chr8:130149814..130152182,3	K562	blood:
2	chr8:130141276..130144083-chr8:130203489..130205820,2	K562	blood:
3	chr8:130133687..130135596-chr8:130141322..130143040,2	K562	blood:
4	chr8:130142319..130144172-chr8:130152897..130155055,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536298003	chr8:130142685-130142686	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537183964	chr8:130142700-130142701	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184551229	chr8:130142703-130142704	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189471685	chr8:130142708-130142709	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113035293	chr8:130142806-130142807	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191261811	chr8:130142809-130142810	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7829296	chr8:130142821-130142822	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76417727	chr8:130142828-130142829	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184582484	chr8:130142857-130142858	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564096829	chr8:130142865-130142866	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531416801	chr8:130142877-130142878	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549914750	chr8:130142891-130142892	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114622676	chr8:130142909-130142910	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529523174	chr8:130142926-130142927	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117131748	chr8:130142927-130142928	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371600836	chr8:130142935-130142936	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540155124	chr8:130142967-130142968	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6999518	chr8:130142975-130142976	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576095252	chr8:130143023-130143024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569730366	chr8:130143078-130143079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537118937	chr8:130143084-130143085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149599468	chr8:130143092-130143093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189516579	chr8:130143154-130143155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181155816	chr8:130143169-130143170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35544695	chr8:130143180-130143181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397717521	chr8:130143188-130143189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553977831	chr8:130143272-130143273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559359888	chr8:130143274-130143275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527574461	chr8:130143278-130143279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546110339	chr8:130143279-130143280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143236691	chr8:130143289-130143290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374923149	chr8:130143351-130143352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543505124	chr8:130143377-130143378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186468387	chr8:130143463-130143464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529032826	chr8:130143467-130143468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11989135	chr8:130143494-130143495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76739733	chr8:130143537-130143538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141833308	chr8:130143554-130143555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369533424	chr8:130143634-130143635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552073546	chr8:130143648-130143649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56099035	chr8:130143650-130143651	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530823020	chr8:130143706-130143707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549005590	chr8:130143737-130143738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559270093	chr8:130143744-130143745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567416966	chr8:130143778-130143779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35209487	chr8:130143809-130143810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535145281	chr8:130143823-130143824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553667133	chr8:130143830-130143831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377662206	chr8:130143936-130143937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146277357	chr8:130143956-130143957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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
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
Acute myeloid leukemia	20729466	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
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130126400-130160600	Weak transcription	Fetal Thymus	thymus
2	chr8:130142600-130143000	Genic enhancers	Dnd41	blood
3	chr8:130143000-130146000	Strong transcription	Dnd41	blood

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