Variant report

Variant	nsv517893
Chromosome Location	chr8:103121989-103123037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103117364..103120108-chr8:103121907..103124531,3	MCF-7	breast:
2	chr8:103119168..103122650-chr8:103122688..103124548,3	K562	blood:
3	chr8:103103923..103106392-chr8:103121808..103124268,2	MCF-7	breast:
4	chr8:103119168..103122650-chr8:103122688..103124548,3	K562	blood:
5	chr8:103111624..103115089-chr8:103119935..103122230,3	MCF-7	breast:
6	chr8:103112507..103115331-chr8:103120087..103122301,2	K562	blood:
7	chr8:103120999..103123102-chr8:103127783..103130761,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9649919	chr8:103121989-103121990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139010128	chr8:103121995-103121996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6994672	chr8:103122021-103122022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552369234	chr8:103122042-103122043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375849739	chr8:103122061-103122062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71518846	chr8:103122077-103122078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534240647	chr8:103122096-103122097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140718907	chr8:103122222-103122223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577452517	chr8:103122257-103122258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545206393	chr8:103122343-103122344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557145624	chr8:103122431-103122432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533942678	chr8:103122467-103122468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370026714	chr8:103122508-103122509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181274897	chr8:103122650-103122651	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145623636	chr8:103122651-103122652	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551955450	chr8:103122658-103122659	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376963959	chr8:103122719-103122720	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76381493	chr8:103122741-103122742	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539886997	chr8:103122742-103122743	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs117554369	chr8:103122786-103122787	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185457466	chr8:103122857-103122858	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138233122	chr8:103122858-103122859	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569451004	chr8:103122905-103122906	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190657168	chr8:103122937-103122938	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548869232	chr8:103122951-103122952	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs13278017	chr8:103123037-103123038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	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
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103116400-103122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:103116400-103123600	Weak transcription	Fetal Brain Male	brain
3	chr8:103119200-103135200	Weak transcription	Spleen	Spleen
4	chr8:103120400-103123600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:103120400-103124400	Weak transcription	Gastric	stomach
6	chr8:103120400-103126200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:103120400-103126400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:103120400-103126800	Weak transcription	Esophagus	oesophagus
9	chr8:103120400-103129200	Weak transcription	Pancreas	Pancrea
10	chr8:103120400-103133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103120400-103133400	Weak transcription	Fetal Brain Female	brain
12	chr8:103120400-103134200	Weak transcription	Lung	lung
13	chr8:103120400-103135400	Weak transcription	Placenta	Placenta
14	chr8:103120600-103125600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:103120800-103122000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:103120800-103122000	Enhancers	GM12878-XiMat	blood
17	chr8:103120800-103123400	Weak transcription	Right Ventricle	heart
18	chr8:103120800-103123600	Weak transcription	Left Ventricle	heart
19	chr8:103120800-103124400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:103120800-103124600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:103120800-103126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:103120800-103129400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:103120800-103134200	Weak transcription	Fetal Stomach	stomach
24	chr8:103121000-103122800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:103121000-103124200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:103121000-103126400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:103121200-103123800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:103121200-103124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:103121200-103124400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:103121200-103124600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:103121200-103124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:103121400-103122200	Weak transcription	Aorta	Aorta
33	chr8:103121400-103122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:103121400-103122600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:103121400-103123400	Weak transcription	Ovary	ovary
36	chr8:103121400-103123600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:103121400-103123600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:103121400-103124000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:103121400-103124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:103121400-103124400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:103121400-103124400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:103121400-103124400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:103121400-103124800	Weak transcription	Psoas Muscle	Psoas
44	chr8:103121400-103126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:103121400-103126200	Weak transcription	Right Atrium	heart
46	chr8:103121400-103126200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:103121400-103126600	Weak transcription	Adipose Nuclei	Adipose
48	chr8:103121400-103131400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:103121600-103122600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:103121600-103122800	Weak transcription	Fetal Heart	heart

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