Variant report

Variant	nsv1020493
Chromosome Location	chr8:85246493-85268654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
2	chr8:85168225..85170591-chr8:85247775..85249276,2	K562	blood:
3	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
4	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
5	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:

Extended variants
information (count: 293 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73293096	chr8:85246512-85246513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372789822	chr8:85246518-85246519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184063129	chr8:85246528-85246529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199989141	chr8:85246574-85246575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188645738	chr8:85246591-85246592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192959369	chr8:85246592-85246593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144904014	chr8:85246650-85246651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113727322	chr8:85246672-85246673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148997938	chr8:85246690-85246691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553111636	chr8:85246775-85246776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375014983	chr8:85246792-85246793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536441483	chr8:85246797-85246798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73293097	chr8:85246814-85246815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369494834	chr8:85246816-85246817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182477607	chr8:85246833-85246834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79806189	chr8:85246835-85246836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373445472	chr8:85246902-85246903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542163965	chr8:85246904-85246905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113541985	chr8:85246998-85246999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142979117	chr8:85247035-85247036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535481232	chr8:85247038-85247039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546454185	chr8:85247068-85247069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186885590	chr8:85247075-85247076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542811004	chr8:85247085-85247086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191778318	chr8:85247092-85247093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74316572	chr8:85247130-85247131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549497240	chr8:85247133-85247134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551376777	chr8:85247140-85247141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564678178	chr8:85247141-85247142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79624581	chr8:85247143-85247144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569360526	chr8:85247164-85247165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73293099	chr8:85247241-85247242	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374074056	chr8:85247243-85247244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183471393	chr8:85247314-85247315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80229391	chr8:85247320-85247321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373255641	chr8:85247330-85247331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376612033	chr8:85247363-85247364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147706938	chr8:85247395-85247396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561535419	chr8:85247423-85247424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73293100	chr8:85247463-85247464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538469320	chr8:85247504-85247505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117701335	chr8:85247511-85247512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550157715	chr8:85247538-85247539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146847168	chr8:85247546-85247547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139121989	chr8:85247547-85247548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115989102	chr8:85247550-85247551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559488215	chr8:85247565-85247566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75806652	chr8:85247567-85247568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544735614	chr8:85247602-85247603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564981368	chr8:85247615-85247616	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85241200-85247200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:85245400-85247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:85247200-85247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:85247200-85247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:85247200-85247600	Enhancers	Right Atrium	heart
6	chr8:85247200-85248600	Enhancers	Fetal Heart	heart
7	chr8:85247400-85249600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:85247600-85249200	Enhancers	Fetal Brain Male	brain
9	chr8:85247800-85248600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:85248000-85248400	Enhancers	Stomach Smooth Muscle	stomach
11	chr8:85248000-85248600	Enhancers	Fetal Brain Female	brain
12	chr8:85263200-85263600	Enhancers	Brain Germinal Matrix	brain
13	chr8:85264000-85264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:85264000-85264200	Enhancers	Brain Germinal Matrix	brain
15	chr8:85264600-85265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:85264800-85265000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:85265000-85265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:85265400-85267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:85265600-85266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:85265600-85266600	Enhancers	NH-A	brain
21	chr8:85265600-85266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:85265600-85266800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:85265600-85267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:85265600-85267600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:85265600-85267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:85265600-85268200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:85265800-85266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:85265800-85267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:85265800-85267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:85265800-85267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:85266400-85268200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:85267200-85268200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:85267200-85272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:85268200-85268400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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