Variant report

Variant	nsv890986
Chromosome Location	chr8:69647914-69704366
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69670346..69670937-chr8:70023622..70024278,2	MCF-7	breast:
2	chr8:69670378..69672339-chr8:69676760..69679321,2	MCF-7	breast:
3	chr8:69666329..69668824-chr8:69675857..69677565,2	K562	blood:
4	chr8:69489517..69490141-chr8:69685805..69686684,3	MCF-7	breast:
5	chr8:69671516..69674416-chr8:69676691..69679997,3	MCF-7	breast:
6	chr8:69671516..69674416-chr8:69676691..69679997,3	MCF-7	breast:
7	chr8:69677317..69679811-chr8:69757202..69760152,2	MCF-7	breast:
8	chr8:69648438..69649075-chr8:69686043..69686623,2	MCF-7	breast:
9	chr8:69488341..69491069-chr8:69684855..69686356,2	MCF-7	breast:
10	chr8:69684731..69687775-chr8:69763630..69766534,4	MCF-7	breast:
11	chr8:69642750..69644961-chr8:69646657..69649716,3	MCF-7	breast:
12	chr8:69666329..69668824-chr8:69675857..69677565,2	K562	blood:
13	chr8:69697820..69699417-chr8:69699865..69701622,2	MCF-7	breast:
14	chr8:69489841..69490343-chr8:69685997..69686537,2	MCF-7	breast:
15	chr8:69697820..69699417-chr8:69699865..69701622,2	MCF-7	breast:
16	chr8:69645690..69648513-chr8:69767152..69768699,2	MCF-7	breast:
17	chr8:69673127..69675318-chr8:69764548..69766333,2	MCF-7	breast:
18	chr8:69670378..69672339-chr8:69676760..69679321,2	MCF-7	breast:
19	chr8:69534376..69536332-chr8:69649057..69650937,3	MCF-7	breast:
20	chr8:69648438..69649075-chr8:69686043..69686623,2	MCF-7	breast:
21	chr8:69644877..69647559-chr8:69652685..69654963,2	MCF-7	breast:
22	chr8:69684482..69688368-chr8:69762278..69766064,4	MCF-7	breast:
23	chr8:69644879..69649268-chr8:69762842..69766568,7	MCF-7	breast:
24	chr8:69533271..69537103-chr8:69641120..69648413,10	MCF-7	breast:
25	chr8:69646544..69649655-chr8:69763706..69767097,3	MCF-7	breast:
26	chr8:69650223..69652118-chr8:69763019..69765999,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254337	chromatin interactions

Extended variants
information (count: 2302 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2302 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4737915	chr8:69647914-69647915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140664265	chr8:69647951-69647952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537242216	chr8:69648002-69648003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74346777	chr8:69648057-69648058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571471646	chr8:69648063-69648064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372513113	chr8:69648163-69648164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7000878	chr8:69648164-69648165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182373882	chr8:69648181-69648182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551153890	chr8:69648327-69648328	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542078120	chr8:69648332-69648333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562049220	chr8:69648427-69648428	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369116233	chr8:69648436-69648437	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150471317	chr8:69648445-69648446	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551138300	chr8:69648512-69648513	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561257179	chr8:69648576-69648577	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186995850	chr8:69648594-69648595	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533437476	chr8:69648631-69648632	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74772743	chr8:69648656-69648657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566830095	chr8:69648700-69648701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535851076	chr8:69648708-69648709	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566026975	chr8:69648771-69648772	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377115775	chr8:69648850-69648851	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138335901	chr8:69648856-69648857	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568354320	chr8:69648858-69648859	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192730225	chr8:69648995-69648996	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185052172	chr8:69648998-69648999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570576778	chr8:69649013-69649014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73275937	chr8:69649018-69649019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555326160	chr8:69649050-69649051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552661452	chr8:69649051-69649052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573681338	chr8:69649057-69649058	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549929738	chr8:69649077-69649078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148202584	chr8:69649118-69649119	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367804283	chr8:69649122-69649123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188372338	chr8:69649144-69649145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554976218	chr8:69649151-69649152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575508917	chr8:69649159-69649160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544598482	chr8:69649168-69649169	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564667341	chr8:69649282-69649283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533370162	chr8:69649329-69649330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540674757	chr8:69649344-69649345	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560563516	chr8:69649367-69649368	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193184958	chr8:69649401-69649402	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537917254	chr8:69649464-69649465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549383807	chr8:69649476-69649477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569302967	chr8:69649485-69649486	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530805742	chr8:69649518-69649519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372196204	chr8:69649530-69649531	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371020847	chr8:69649547-69649548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570587671	chr8:69649617-69649618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69640200-69676800	Weak transcription	Aorta	Aorta
2	chr8:69642400-69650800	Weak transcription	Fetal Lung	lung
3	chr8:69647000-69648400	Weak transcription	HSMMtube	muscle
4	chr8:69647000-69649800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:69647000-69649800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:69647200-69648200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:69647200-69648200	Weak transcription	NHDF-Ad	bronchial
8	chr8:69647200-69648200	Weak transcription	NHLF	lung
9	chr8:69647400-69648200	Weak transcription	Osteobl	bone
10	chr8:69647800-69648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:69647800-69649400	Enhancers	HSMM	muscle
12	chr8:69648200-69648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:69648200-69649800	Enhancers	NHLF	lung
14	chr8:69648400-69648600	Enhancers	HSMMtube	muscle
15	chr8:69648400-69648600	Enhancers	NHDF-Ad	bronchial
16	chr8:69649000-69649200	Enhancers	Osteobl	bone
17	chr8:69651000-69651200	Enhancers	Fetal Lung	lung
18	chr8:69660800-69662800	Weak transcription	HSMM	muscle
19	chr8:69662000-69662200	Enhancers	NHLF	lung
20	chr8:69662200-69663200	Weak transcription	NHLF	lung
21	chr8:69662400-69662600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:69662400-69664600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:69662800-69663000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:69662800-69665000	Enhancers	HSMM	muscle
25	chr8:69662800-69667800	Enhancers	Fetal Lung	lung
26	chr8:69663000-69664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:69663200-69663400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:69663200-69663600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:69663200-69663600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:69663200-69663800	Enhancers	NHDF-Ad	bronchial
31	chr8:69663200-69664000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:69663200-69664400	Enhancers	Osteobl	bone
33	chr8:69663200-69666800	Enhancers	NHLF	lung
34	chr8:69663400-69663600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:69663400-69663800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:69663400-69663800	Enhancers	NH-A	brain
37	chr8:69663400-69664000	Enhancers	HSMMtube	muscle
38	chr8:69663600-69663800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:69663600-69664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:69663600-69665800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:69663600-69666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:69663600-69672200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:69663800-69664800	Weak transcription	NHDF-Ad	bronchial
44	chr8:69663800-69666000	Weak transcription	NH-A	brain
45	chr8:69664000-69666400	Weak transcription	HSMMtube	muscle
46	chr8:69664000-69670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:69664200-69664600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:69664400-69666000	Weak transcription	Osteobl	bone
49	chr8:69664600-69664800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:69664600-69665600	Weak transcription	Muscle Satellite Cultured Cells	--

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