Variant report

Variant	nsv1025923
Chromosome Location	chr8:121093383-121108706
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120886696..120887265-chr8:121096813..121097521,2	MCF-7	breast:
2	chr8:120879060..120880090-chr8:121096532..121097875,8	MCF-7	breast:
3	chr8:121098868..121101736-chr8:121103594..121106320,2	K562	blood:
4	chr8:121101234..121102161-chr8:121433716..121434410,3	MCF-7	breast:
5	chr8:120992148..120993125-chr8:121096415..121097113,2	MCF-7	breast:
6	chr8:120879142..120880209-chr8:121095976..121097529,9	K562	blood:
7	chr8:121098868..121101736-chr8:121103594..121106320,2	K562	blood:
8	chr8:120992589..120993124-chr8:121096758..121097431,2	MCF-7	breast:
9	chr8:120875465..120877804-chr8:121095827..121097484,2	K562	blood:
10	chr8:120884815..120886891-chr8:121092151..121093843,2	MCF-7	breast:
11	chr8:120994947..120997560-chr8:121091534..121094134,2	MCF-7	breast:
12	chr8:121100236..121103118-chr8:121103170..121106043,3	K562	blood:
13	chr8:121101214..121101978-chr8:121357224..121358279,4	MCF-7	breast:
14	chr8:121101262..121102410-chr8:121433293..121434444,6	MCF-7	breast:
15	chr8:121082264..121084470-chr8:121096952..121099036,2	K562	blood:
16	chr8:121100236..121103118-chr8:121103170..121106043,3	K562	blood:
17	chr8:120879482..120880043-chr8:121096505..121097479,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187955	chromatin interactions
ENSG00000155792	chromatin interactions
ENSG00000245330	chromatin interactions

Extended variants
information (count: 645 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372552281	chr8:121093416-121093417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190970678	chr8:121093435-121093436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62526966	chr8:121093476-121093477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541254170	chr8:121093507-121093508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560133975	chr8:121093536-121093537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530404356	chr8:121093537-121093538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548868563	chr8:121093539-121093540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570090275	chr8:121093541-121093542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530767795	chr8:121093542-121093543	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570380273	chr8:121093579-121093580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs78014224	chr8:121093604-121093605	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6997910	chr8:121093628-121093629	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150647200	chr8:121093633-121093634	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552728601	chr8:121093701-121093702	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201502275	chr8:121093721-121093722	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533643841	chr8:121093722-121093723	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552072762	chr8:121093726-121093727	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143531827	chr8:121093740-121093741	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116042811	chr8:121093799-121093800	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535376165	chr8:121093803-121093804	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556808901	chr8:121093830-121093831	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575197132	chr8:121093852-121093853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs72675741	chr8:121093857-121093858	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9987405	chr8:121093875-121093876	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182125516	chr8:121093899-121093900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541670304	chr8:121093902-121093903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs9987262	chr8:121093982-121093983	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143589308	chr8:121094014-121094015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200317696	chr8:121094023-121094024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542545925	chr8:121094046-121094047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563790430	chr8:121094073-121094074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186777385	chr8:121094143-121094144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372962342	chr8:121094159-121094160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575711615	chr8:121094169-121094170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573896361	chr8:121094171-121094172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552287542	chr8:121094182-121094183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570952732	chr8:121094188-121094189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116031733	chr8:121094247-121094248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146876677	chr8:121094320-121094321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140737681	chr8:121094350-121094351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556845798	chr8:121094448-121094449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191648409	chr8:121094481-121094482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182701625	chr8:121094498-121094499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557443918	chr8:121094517-121094518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572925067	chr8:121094526-121094527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113488732	chr8:121094576-121094577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12548601	chr8:121094580-121094581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371005858	chr8:121094583-121094584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113658916	chr8:121094596-121094597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570265400	chr8:121094597-121094598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121075600-121095800	Weak transcription	Gastric	stomach
2	chr8:121086000-121094400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:121089800-121093400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:121090400-121094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:121091000-121094400	Weak transcription	Osteobl	bone
6	chr8:121091000-121094600	Weak transcription	Ovary	ovary
7	chr8:121091200-121095400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:121092200-121093400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:121092800-121093400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:121093000-121093600	Weak transcription	Placenta	Placenta
11	chr8:121093000-121094600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:121093400-121095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:121093400-121095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:121093400-121095800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:121093600-121094000	ZNF genes & repeats	Placenta	Placenta
16	chr8:121094000-121094400	Weak transcription	Placenta	Placenta
17	chr8:121094400-121094800	Enhancers	HepG2	liver
18	chr8:121094400-121095400	Enhancers	Fetal Intestine Large	intestine
19	chr8:121094400-121095800	Enhancers	NH-A	brain
20	chr8:121094400-121096000	Enhancers	Placenta	Placenta
21	chr8:121094400-121097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:121094400-121097600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121094400-121097600	Enhancers	Osteobl	bone
24	chr8:121094400-121098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:121094600-121094800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:121094600-121095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:121094600-121096600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:121094600-121096600	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:121094600-121096800	Enhancers	Ovary	ovary
30	chr8:121094800-121095200	Weak transcription	Fetal Intestine Small	intestine
31	chr8:121094800-121095800	Enhancers	Right Ventricle	heart
32	chr8:121094800-121096000	Enhancers	NHDF-Ad	bronchial
33	chr8:121094800-121097600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:121095000-121095200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:121095000-121097000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:121095000-121097400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:121095200-121095400	Enhancers	Fetal Intestine Small	intestine
38	chr8:121095200-121101200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:121095400-121095600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:121095400-121096600	Weak transcription	Fetal Intestine Large	intestine
41	chr8:121095400-121097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:121095600-121096000	Enhancers	Spleen	Spleen
43	chr8:121095600-121096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:121095800-121096000	Enhancers	Gastric	stomach
45	chr8:121095800-121096600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:121095800-121096600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:121096000-121096400	Weak transcription	Placenta	Placenta
48	chr8:121096000-121096400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:121096000-121097400	Enhancers	A549	lung
50	chr8:121096200-121097400	Enhancers	Hela-S3	cervix

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