Variant report

Variant	nsv528628
Chromosome Location	chr8:121019737-121023967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121022166..121023935-chr8:121042029..121044989,2	K562	blood:
2	chr8:121014717..121017057-chr8:121018233..121020594,3	K562	blood:
3	chr8:121022467..121024614-chr8:121031639..121034305,2	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2037344	chr8:121019737-121019738	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2037343	chr8:121019769-121019770	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs145841755	chr8:121019795-121019796	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16893418	chr8:121019833-121019834	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566608782	chr8:121019842-121019843	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2037342	chr8:121019872-121019873	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs34917989	chr8:121019876-121019877	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558440789	chr8:121019896-121019897	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574758216	chr8:121019931-121019932	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186878911	chr8:121019937-121019938	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557102316	chr8:121019972-121019973	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575576852	chr8:121019990-121019991	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546019393	chr8:121020020-121020021	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59835121	chr8:121020037-121020038	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74921253	chr8:121020058-121020059	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557091093	chr8:121020061-121020062	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544138322	chr8:121020235-121020236	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78062726	chr8:121020302-121020303	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561982175	chr8:121020322-121020323	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370354966	chr8:121020387-121020388	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4086915	chr8:121020422-121020423	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1850886	chr8:121020538-121020539	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562379241	chr8:121020549-121020550	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs192745453	chr8:121020594-121020595	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs551235163	chr8:121020603-121020604	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs566519328	chr8:121020666-121020667	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs185196140	chr8:121020682-121020683	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs546761827	chr8:121020687-121020688	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs377046684	chr8:121020766-121020767	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs35570467	chr8:121020781-121020782	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs397824650	chr8:121020784-121020785	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs207469833	chr8:121020796-121020797	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs79145270	chr8:121020804-121020805	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs535776895	chr8:121020845-121020846	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs190122561	chr8:121020868-121020869	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs557621767	chr8:121020937-121020938	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs569201083	chr8:121020946-121020947	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs13272368	chr8:121020957-121020958	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11986968	chr8:121020980-121020981	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs111273339	chr8:121020981-121020982	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs573343526	chr8:121021007-121021008	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113626668	chr8:121021024-121021025	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113681836	chr8:121021066-121021067	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529977913	chr8:121021069-121021070	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540457878	chr8:121021102-121021103	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560129457	chr8:121021160-121021161	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527750843	chr8:121021195-121021196	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201511583	chr8:121021225-121021226	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372070231	chr8:121021226-121021227	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573865495	chr8:121021228-121021229	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
4	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
6	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
7	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
9	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
10	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
11	chr8:121013800-121020000	Strong transcription	Fetal Intestine Large	intestine
12	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:121015000-121020200	Strong transcription	Liver	Liver
14	chr8:121015200-121020000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:121015200-121022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:121015200-121023400	Weak transcription	Aorta	Aorta
17	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
18	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:121015800-121019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:121015800-121021000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:121016000-121021200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:121016000-121023200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:121016000-121025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
25	chr8:121016200-121021000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:121016800-121019800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:121017000-121019800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:121017000-121020000	Strong transcription	Gastric	stomach
29	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
30	chr8:121017200-121029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121017400-121019800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr8:121017400-121019800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:121017400-121020200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:121017600-121019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:121017600-121020000	Strong transcription	Ovary	ovary
36	chr8:121017600-121020000	Weak transcription	Osteobl	bone
37	chr8:121017600-121020200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:121017600-121021600	Strong transcription	Fetal Intestine Small	intestine
39	chr8:121017800-121020400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:121017800-121021000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:121017800-121022400	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
43	chr8:121018200-121019800	Weak transcription	Adipose Nuclei	Adipose
44	chr8:121018200-121021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:121018200-121021800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:121018200-121023200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
48	chr8:121018800-121023800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:121019000-121020000	Strong transcription	Esophagus	oesophagus
50	chr8:121019000-121020200	Strong transcription	Brain Substantia Nigra	brain

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