Variant report

Variant	nsv890987
Chromosome Location	chr8:69959105-70004698
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:23)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69958015..69960106-chr8:69960597..69962712,2	MCF-7	breast:
2	chr8:69982370..69984054-chr8:70022470..70024462,2	MCF-7	breast:
3	chr8:69765805..69766693-chr8:69985208..69986080,2	MCF-7	breast:
4	chr8:69765117..69767304-chr8:69979220..69980795,2	MCF-7	breast:
5	chr8:69764800..69767559-chr8:69983778..69986408,3	MCF-7	breast:
6	chr8:69957989..69958798-chr8:69985484..69986335,2	MCF-7	breast:
7	chr8:69975159..69977990-chr8:69979931..69981486,2	MCF-7	breast:
8	chr8:69789651..69791167-chr8:69988330..69989874,2	MCF-7	breast:
9	chr8:69766557..69767484-chr8:69984843..69985678,2	MCF-7	breast:
10	chr8:69937690..69940143-chr8:69983097..69986013,2	MCF-7	breast:
11	chr8:69997504..69999582-chr8:70002497..70004778,2	K562	blood:
12	chr8:69766397..69768626-chr8:69981914..69983508,2	MCF-7	breast:
13	chr8:70001405..70003044-chr8:70008667..70011534,2	MCF-7	breast:
14	chr8:69754552..69756282-chr8:69983861..69986611,2	MCF-7	breast:
15	chr8:69964582..69966188-chr8:69967897..69970784,2	MCF-7	breast:
16	chr8:69975159..69977990-chr8:69979931..69981486,2	MCF-7	breast:
17	chr8:69765987..69767833-chr8:69983718..69985913,2	MCF-7	breast:
18	chr8:69964582..69966188-chr8:69967897..69970784,2	MCF-7	breast:
19	chr8:69997504..69999582-chr8:70002497..70004778,2	K562	blood:
20	chr8:69958015..69960106-chr8:69960597..69962712,2	MCF-7	breast:
21	chr8:69764090..69766145-chr8:69962890..69964746,2	MCF-7	breast:
22	chr8:69950249..69951981-chr8:69958814..69960686,2	MCF-7	breast:
23	chr8:69766399..69767115-chr8:69991782..69992767,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-664D7.4.1-3	chr8:69980713-69980750	XLOC_007116
2	lnc-RP11-664D7.4.1-3	chr8:69972715-69972958	XLOC_007116
3	lnc-RP11-664D7.4.1-3	chr8:69967582-69968366	XLOC_007116
4	lnc-SLCO5A1-8	chr8:69986592-69988329	ucscGeneNc_uc003xyc_1
5	lnc-RP11-664D7.4.1-3	chr8:69968072-69968366	XLOC_007116
6	lnc-RP11-664D7.4.1-3	chr8:69980563-69980784	ENSG00000253658.1
7	lnc-SLCO5A1-8	chr8:69999176-69999284	ucscGeneNc_uc003xyc_1
8	lnc-RP11-664D7.4.1-3	chr8:69972715-69972721	XLOC_007116

No data

Variant related genes	Relation type
ENSG00000254337	chromatin interactions
ENSG00000238808	chromatin interactions

Extended variants
information (count: 1823 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1823 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2981060	chr8:69959105-69959106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190428130	chr8:69959120-69959121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534656513	chr8:69959137-69959138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2981059	chr8:69959177-69959178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567193485	chr8:69959264-69959265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181558435	chr8:69959289-69959290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547843458	chr8:69959364-69959365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138141620	chr8:69959397-69959398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576185444	chr8:69959407-69959408	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545084098	chr8:69959455-69959456	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558726348	chr8:69959462-69959463	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572181835	chr8:69959497-69959498	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79132151	chr8:69959517-69959518	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76275697	chr8:69959520-69959521	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559715441	chr8:69959597-69959598	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201642534	chr8:69959762-69959763	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2981058	chr8:69959765-69959766	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186123985	chr8:69959766-69959767	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543797915	chr8:69959775-69959776	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191790231	chr8:69959830-69959831	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532645536	chr8:69959867-69959868	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552359737	chr8:69959907-69959908	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146076915	chr8:69959923-69959924	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573484327	chr8:69959947-69959948	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115626043	chr8:69959960-69959961	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184122937	chr8:69960039-69960040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548142427	chr8:69960055-69960056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568148724	chr8:69960056-69960057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548350209	chr8:69960075-69960076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185805739	chr8:69960134-69960135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549854167	chr8:69960162-69960163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569822839	chr8:69960185-69960186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372712336	chr8:69960231-69960232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545654621	chr8:69960277-69960278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538415562	chr8:69960280-69960281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558789523	chr8:69960282-69960283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572144993	chr8:69960308-69960309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534725157	chr8:69960343-69960344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554591664	chr8:69960348-69960349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2981057	chr8:69960419-69960420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544094580	chr8:69960446-69960447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563870858	chr8:69960459-69960460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577466306	chr8:69960488-69960489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545957312	chr8:69960528-69960529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199850305	chr8:69960620-69960621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373378502	chr8:69960661-69960662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559535154	chr8:69960670-69960671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537337672	chr8:69960687-69960688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190982697	chr8:69960693-69960694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117532036	chr8:69960694-69960695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69952000-69959400	Weak transcription	HSMM	muscle
2	chr8:69953800-69959800	Weak transcription	Aorta	Aorta
3	chr8:69956200-69961200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:69956400-69959200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:69956600-69961000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:69956800-69959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:69958200-69961000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:69959200-69959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:69959400-69960000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:69959400-69960400	Strong transcription	HSMM	muscle
11	chr8:69959600-69959800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:69959600-69959800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:69959800-69960000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:69959800-69960000	Enhancers	Aorta	Aorta
15	chr8:69959800-69961000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:69960000-69961000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:69960200-69961200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:69960400-69973600	Weak transcription	HSMM	muscle
19	chr8:69961000-69961600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:69961000-69961600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:69961000-69961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:69961000-69962200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:69961000-69962400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:69961200-69961600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:69961200-69961600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:69961200-69961800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:69973000-69974800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:69973600-69974000	ZNF genes & repeats	HSMM	muscle
29	chr8:69974000-69980600	Weak transcription	HSMM	muscle
30	chr8:69974600-69975200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:69974800-69975600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:69975600-69979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:69979400-69980000	Enhancers	Osteobl	bone
34	chr8:69979400-69982400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:69979600-69985200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:69980000-69981200	Weak transcription	Osteobl	bone
37	chr8:69980200-69981800	Enhancers	NHEK	skin
38	chr8:69980200-69984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:69980400-69980600	Enhancers	NHLF	lung
40	chr8:69980400-69981000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:69980600-69984800	Enhancers	HSMM	muscle
42	chr8:69980800-69981000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:69980800-69981000	Enhancers	HMEC	breast
44	chr8:69981000-69981200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:69981000-69982200	Weak transcription	NHLF	lung
46	chr8:69981000-69983200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:69981000-69983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:69981200-69983400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:69981200-69985000	Enhancers	Osteobl	bone
50	chr8:69981400-69983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links