Variant report

Variant	nsv611835
Chromosome Location	chr8:105090980-105153786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104775882..104776978-chr8:105142360..105143119,4	MCF-7	breast:
2	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
3	chr8:104775998..104777146-chr8:105142053..105143087,6	MCF-7	breast:
4	chr8:104719235..104720149-chr8:105142112..105143028,4	MCF-7	breast:
5	chr5:134061778..134062420-chr8:105118451..105119152,2	MCF-7	breast:
6	chr8:104761856..104762718-chr8:105142470..105143058,2	MCF-7	breast:
7	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
8	chr8:104808988..104809567-chr8:105142388..105143010,2	MCF-7	breast:
9	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
10	chr8:104807876..104808412-chr8:105142129..105143128,2	K562	blood:
11	chr8:104776697..104777502-chr8:105142088..105142615,2	K562	blood:
12	chr19:35402456..35403352-chr8:105139491..105140129,2	MCF-7	breast:
13	chr8:104718269..104720075-chr8:105140265..105142046,2	MCF-7	breast:
14	chr8:105102613..105105589-chr8:105106211..105108710,2	MCF-7	breast:
15	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
16	chr8:105153535..105155055-chr8:105174946..105177136,2	MCF-7	breast:
17	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
18	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
19	chr8:105142189..105143073-chr8:105430071..105430902,5	MCF-7	breast:
20	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
21	chr8:104807373..104809649-chr8:105142104..105143087,16	MCF-7	breast:
22	chr8:105142223..105142821-chr8:105337869..105338754,2	MCF-7	breast:

No data

Extended variants
information (count: 2164 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2164 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9656861	chr8:105090980-105090981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189450340	chr8:105091086-105091087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375208222	chr8:105091091-105091092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139215327	chr8:105091110-105091111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145111537	chr8:105091169-105091170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560635701	chr8:105091220-105091221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572688062	chr8:105091261-105091262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536848677	chr8:105091321-105091322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542309811	chr8:105091395-105091396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112584924	chr8:105091410-105091411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149950446	chr8:105091499-105091500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72683195	chr8:105091573-105091574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531190793	chr8:105091598-105091599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543433006	chr8:105091680-105091681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561551638	chr8:105091703-105091704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528944916	chr8:105091796-105091797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199780383	chr8:105091827-105091828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5893676	chr8:105091863-105091864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66555072	chr8:105091869-105091870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71824649	chr8:105091910-105091911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34198218	chr8:105091915-105091916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192644765	chr8:105091962-105091963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144901740	chr8:105092120-105092121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533003319	chr8:105092234-105092235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73297530	chr8:105092260-105092261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569969539	chr8:105092275-105092276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537832457	chr8:105092341-105092342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556496615	chr8:105092354-105092355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76917763	chr8:105092360-105092361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141919610	chr8:105092365-105092366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72683196	chr8:105092401-105092402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115508789	chr8:105092433-105092434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546452148	chr8:105092481-105092482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114449694	chr8:105092485-105092486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201381049	chr8:105092492-105092493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576645142	chr8:105092568-105092569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184454544	chr8:105092624-105092625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561685316	chr8:105092638-105092639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368302997	chr8:105092688-105092689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188963087	chr8:105092767-105092768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540723721	chr8:105092816-105092817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559061829	chr8:105092908-105092909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371106284	chr8:105092925-105092926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369488862	chr8:105092939-105092940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144307703	chr8:105092942-105092943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551191138	chr8:105092968-105092969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182044257	chr8:105092993-105092994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147810200	chr8:105093016-105093017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141219509	chr8:105093030-105093031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114825083	chr8:105093031-105093032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105085200-105095200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:105085200-105113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:105088200-105114400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:105094200-105094800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:105094400-105095600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:105094600-105095600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:105094800-105095200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:105095200-105095600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:105095200-105095600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:105095200-105095600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:105095200-105096000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:105095600-105107400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:105097400-105097600	Bivalent Enhancer	HSMMtube	muscle
14	chr8:105113200-105114200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:105114200-105115400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:105114400-105115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:105114800-105115400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:105115400-105122400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:105115400-105150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:105121000-105122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:105122600-105123200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:105123200-105126600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:105126600-105126800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr8:105127400-105127800	Enhancers	Brain Germinal Matrix	brain
25	chr8:105128000-105128400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:105136600-105137200	Enhancers	Brain Germinal Matrix	brain
27	chr8:105136800-105137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:105137000-105137400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:105138600-105139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:105138600-105139200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:105139600-105140400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:105140400-105145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:105142400-105142600	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:105142400-105142800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:105142400-105143000	Enhancers	Brain Hippocampus Middle	brain
36	chr8:105143800-105149200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:105145400-105145800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:105150000-105150200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:105150000-105150600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:105150600-105155600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:105151600-105160800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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