Variant report

Variant	nsv528705
Chromosome Location	chr8:120992564-120993134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120992487..120993376-chr8:121072550..121073500,6	MCF-7	breast:
2	chr8:120885927..120888357-chr8:120992198..120996692,5	MCF-7	breast:
3	chr8:120991897..120993934-chr8:121016274..121018192,2	MCF-7	breast:
4	chr8:120992589..120993124-chr8:121096758..121097431,2	MCF-7	breast:
5	chr8:120886491..120887260-chr8:120992637..120993679,3	MCF-7	breast:
6	chr8:120867407..120870404-chr8:120990220..120992815,2	MCF-7	breast:
7	chr8:120992148..120993125-chr8:121096415..121097113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136982	chromatin interactions
ENSG00000245330	chromatin interactions
ENSG00000155792	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 140 )

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	rs2875930	chr8:120992564-120992565	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149830702	chr8:120992594-120992595	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529427296	chr8:120992694-120992695	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370396195	chr8:120992706-120992707	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs528951416	chr8:120992716-120992717	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs181385377	chr8:120992721-120992722	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs57896097	chr8:120992735-120992736	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs373884664	chr8:120992740-120992741	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs71304930	chr8:120992750-120992751	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563840797	chr8:120992752-120992753	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs61554213	chr8:120992754-120992755	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs531258487	chr8:120992755-120992756	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs145494232	chr8:120992769-120992770	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139209339	chr8:120992826-120992827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143987639	chr8:120992827-120992828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11779963	chr8:120992845-120992846	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568218963	chr8:120992885-120992886	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535516481	chr8:120992896-120992897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376890497	chr8:120992902-120992903	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367877961	chr8:120992903-120992904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs62528699	chr8:120992906-120992907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557799499	chr8:120992919-120992920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573091637	chr8:120993004-120993005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113180669	chr8:120993009-120993010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534417228	chr8:120993020-120993021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4871819	chr8:120993134-120993135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:140)

Disease	PMID	Source
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
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
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	17603634	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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
2	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
3	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
4	chr8:120978000-121013600	Weak transcription	Gastric	stomach
5	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
8	chr8:120981600-120992600	Enhancers	Fetal Intestine Large	intestine
9	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:120985600-120996800	Enhancers	Stomach Mucosa	stomach
11	chr8:120986000-120994800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:120986200-120994400	Weak transcription	Right Atrium	heart
13	chr8:120986400-120999600	Weak transcription	Spleen	Spleen
14	chr8:120988400-120996800	Enhancers	Fetal Intestine Small	intestine
15	chr8:120989200-120994400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:120989200-120994400	Weak transcription	Brain Substantia Nigra	brain
17	chr8:120990200-120992600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:120990400-120992600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:120990800-120993200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:120990800-120994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:120990800-120994800	Weak transcription	Pancreas	Pancrea
22	chr8:120990800-120995200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:120990800-121001600	Weak transcription	Ovary	ovary
24	chr8:120991000-120994400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:120991000-120994600	Weak transcription	Brain Angular Gyrus	brain
26	chr8:120991000-120994600	Weak transcription	HepG2	liver
27	chr8:120991000-120999800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:120991200-120993000	Weak transcription	Osteobl	bone
29	chr8:120991200-120993200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:120991200-120993200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:120991200-120994400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:120991200-120994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:120991200-120994400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:120991200-120994600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:120991200-120994600	Weak transcription	Liver	Liver
36	chr8:120991200-120994600	Weak transcription	Colonic Mucosa	Colon
37	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
38	chr8:120991400-120993000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:120991400-120993200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:120991400-120993200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:120991400-120994400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:120991400-120994400	Weak transcription	Fetal Kidney	kidney
43	chr8:120991400-120994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:120991400-120994600	Weak transcription	HSMMtube	muscle
45	chr8:120991400-120994800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:120991400-120995000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:120991400-120995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:120991400-121003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:120991800-120993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:120991800-120993200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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