Variant report

Variant	nsv971251
Chromosome Location	chr8:104607055-104609322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114008908	chr8:104607065-104607066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537169643	chr8:104607106-104607107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7813485	chr8:104607119-104607120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs557026809	chr8:104607137-104607138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567560360	chr8:104607154-104607155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534968467	chr8:104607197-104607198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576726983	chr8:104607203-104607204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553826141	chr8:104607242-104607243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138564969	chr8:104607297-104607298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73701882	chr8:104607351-104607352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558008304	chr8:104607366-104607367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576272130	chr8:104607369-104607370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141223104	chr8:104607408-104607409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561721227	chr8:104607456-104607457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190558028	chr8:104607467-104607468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573603848	chr8:104607518-104607519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545763494	chr8:104607565-104607566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541012846	chr8:104607637-104607638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559830509	chr8:104607641-104607642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150872697	chr8:104607679-104607680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551629287	chr8:104607687-104607688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563554284	chr8:104607695-104607696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552585300	chr8:104607722-104607723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549066829	chr8:104607733-104607734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556513245	chr8:104607741-104607742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534746108	chr8:104607750-104607751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546954879	chr8:104607771-104607772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571525892	chr8:104607793-104607794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138299144	chr8:104607818-104607819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74409666	chr8:104607855-104607856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181641489	chr8:104607865-104607866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111994595	chr8:104607909-104607910	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537680855	chr8:104607989-104607990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542165457	chr8:104608017-104608018	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555212976	chr8:104608029-104608030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573665884	chr8:104608054-104608055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557011504	chr8:104608055-104608056	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540697829	chr8:104608061-104608062	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73701884	chr8:104608083-104608084	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115380749	chr8:104608178-104608179	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376980011	chr8:104608183-104608184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs117441247	chr8:104608227-104608228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531143809	chr8:104608362-104608363	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576407152	chr8:104608425-104608426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544346758	chr8:104608457-104608458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113921914	chr8:104608505-104608506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370958036	chr8:104608516-104608517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186112520	chr8:104608529-104608530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190141336	chr8:104608540-104608541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182609653	chr8:104608560-104608561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Autism	20531469	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104606200-104607800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:104606200-104611400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:104606600-104607800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:104606800-104608200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:104606800-104610000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:104606800-104611000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:104607600-104608800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:104607600-104610000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:104607800-104608000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:104607800-104608000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:104607800-104608400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:104607800-104608400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:104608200-104609200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:104608200-104609200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:104608200-104609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:104608400-104609400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:104608400-104611400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:104608800-104609600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:104609200-104609800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:104609200-104610000	Enhancers	HUES6 Cell Line	embryonic stem cell

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