Variant report

Variant	nsv891330
Chromosome Location	chr8:113942738-114009227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
2	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
3	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
4	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539265998	chr8:113950828-113950829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556280164	chr8:113950849-113950850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576157002	chr8:113950868-113950869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188225107	chr8:113950886-113950887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147867369	chr8:113950897-113950898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561856634	chr8:113950930-113950931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13280853	chr8:113950999-113951000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79818074	chr8:113951006-113951007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564183396	chr8:113951009-113951010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577623280	chr8:113951011-113951012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529123094	chr8:113951013-113951014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546083352	chr8:113951058-113951059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563143136	chr8:113951072-113951073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531801430	chr8:113951085-113951086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548501499	chr8:113951103-113951104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562016917	chr8:113951117-113951118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527695387	chr8:113951132-113951133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78427053	chr8:113951134-113951135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562767540	chr8:113951152-113951153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570617555	chr8:113951181-113951182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376641203	chr8:113951196-113951197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191934097	chr8:113951218-113951219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569867917	chr8:113951239-113951240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11991413	chr8:113951265-113951266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs62514564	chr8:113951274-113951275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566717714	chr8:113951374-113951375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147050507	chr8:113951391-113951392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533860817	chr8:113951412-113951413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557738682	chr8:113951459-113951460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370031994	chr8:113951464-113951465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531295698	chr8:113951479-113951480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73702262	chr8:113951481-113951482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543543086	chr8:113951485-113951486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147692827	chr8:113951509-113951510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576599655	chr8:113951553-113951554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541986034	chr8:113951589-113951590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76351221	chr8:113951655-113951656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527933079	chr8:113951684-113951685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571313991	chr8:113951744-113951745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35055241	chr8:113951757-113951758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149175932	chr8:113951766-113951767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527394722	chr8:113951768-113951769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533160848	chr8:113951790-113951791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190660186	chr8:113975404-113975405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530002158	chr8:113975416-113975417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7007990	chr8:113975465-113975466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544299411	chr8:113975467-113975468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557861473	chr8:113975474-113975475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577753655	chr8:113975479-113975480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72682180	chr8:113975485-113975486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113950800-113951400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:113950800-113951400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:113950800-113951800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:113951000-113951600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:113975400-113975800	Enhancers	Hela-S3	cervix
6	chr8:113976800-113977600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:113977000-113977600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:113983200-113983600	Enhancers	Fetal Intestine Small	intestine
9	chr8:113988000-113988400	Active TSS	Hela-S3	cervix
10	chr8:113988000-113988600	Enhancers	Fetal Brain Male	brain
11	chr8:113994400-113997000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:113994600-113994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:113994600-113995000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:113994600-113995000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:113994800-113995800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:113995000-113995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:113995000-113996000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:113995400-113996000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:113995800-113996200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:113996000-113996200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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