Variant report

Variant	nsv982081
Chromosome Location	chr8:69929430-69943096
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69942113..69944489-chr8:70020530..70022071,2	MCF-7	breast:
2	chr8:69763965..69768682-chr8:69936311..69940629,5	MCF-7	breast:
3	chr8:69766643..69767279-chr8:69937797..69938436,4	MCF-7	breast:
4	chr8:69942324..69944829-chr8:70400082..70401628,2	MCF-7	breast:
5	chr8:69938259..69942128-chr8:69942869..69947061,5	MCF-7	breast:
6	chr8:69766547..69767337-chr8:69937588..69938663,4	MCF-7	breast:
7	chr8:69765308..69766113-chr8:69938078..69939052,3	MCF-7	breast:
8	chr8:69766577..69767096-chr8:69938024..69938567,2	MCF-7	breast:
9	chr8:69936136..69938952-chr8:70399605..70401697,2	MCF-7	breast:
10	chr8:69936504..69939318-chr8:70021780..70023700,3	MCF-7	breast:
11	chr8:69766578..69767279-chr8:69937764..69938297,2	MCF-7	breast:
12	chr7:130443232..130443825-chr8:69939602..69940122,2	K562	blood:
13	chr8:69843828..69845406-chr8:69938047..69940991,2	MCF-7	breast:
14	chr8:69739790..69742259-chr8:69942663..69944315,2	MCF-7	breast:
15	chr8:69765448..69769118-chr8:69936665..69941458,7	MCF-7	breast:
16	chr8:69937690..69940143-chr8:69983097..69986013,2	MCF-7	breast:
17	chr8:69762264..69763807-chr8:69938743..69941277,2	MCF-7	breast:
18	chr8:69763017..69766748-chr8:69941633..69945462,3	MCF-7	breast:
19	chr8:69938259..69942128-chr8:69942869..69947061,5	MCF-7	breast:
20	chr8:69942123..69945264-chr8:69951482..69954001,3	MCF-7	breast:
21	chr8:69779434..69781430-chr8:69938398..69940569,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf34-1	chr8:69942143-69942176	XLOC_006830
2	lnc-C8orf34-1	chr8:69942142-69942176	NONHSAT127107

No data

Variant related genes	Relation type
ENSG00000254337	chromatin interactions
ENSG00000238808	chromatin interactions
AMOTL2	miRNA target sites

Extended variants
information (count: 575 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530662462	chr8:69929526-69929527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149089584	chr8:69929592-69929593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62514740	chr8:69929648-69929649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189726084	chr8:69929662-69929663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576046387	chr8:69929680-69929681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117936016	chr8:69929696-69929697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546963435	chr8:69929699-69929700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181736322	chr8:69929711-69929712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186048368	chr8:69929720-69929721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549206108	chr8:69929724-69929725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35415314	chr8:69929745-69929746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561206407	chr8:69929829-69929830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72709929	chr8:69929836-69929837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146796789	chr8:69929840-69929841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76265800	chr8:69929887-69929888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78390849	chr8:69929924-69929925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189169575	chr8:69929929-69929930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376293580	chr8:69929936-69929937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141214478	chr8:69929944-69929945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181889832	chr8:69929955-69929956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573220219	chr8:69929969-69929970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140626529	chr8:69930000-69930001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140486712	chr8:69930046-69930047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555559237	chr8:69930141-69930142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539975858	chr8:69930147-69930148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115664394	chr8:69930196-69930197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543943610	chr8:69930197-69930198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386726461	chr8:69930265-69930266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2981071	chr8:69930266-69930267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577544108	chr8:69930267-69930268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561129606	chr8:69930294-69930295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540271089	chr8:69930309-69930310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560404632	chr8:69930312-69930313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531520098	chr8:69930344-69930345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529505458	chr8:69930354-69930355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549271165	chr8:69930360-69930361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201605609	chr8:69930378-69930379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531950171	chr8:69930395-69930396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6993750	chr8:69930414-69930415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571738013	chr8:69930419-69930420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184973344	chr8:69930481-69930482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547850181	chr8:69930503-69930504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543697653	chr8:69930534-69930535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6997851	chr8:69930541-69930542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555721940	chr8:69930569-69930570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6997850	chr8:69930583-69930584	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538073209	chr8:69930585-69930586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557565673	chr8:69930623-69930624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191097181	chr8:69930626-69930627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1863590	chr8:69930650-69930651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69921800-69930400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:69923200-69930600	Weak transcription	Osteobl	bone
3	chr8:69928400-69930200	Strong transcription	HSMM	muscle
4	chr8:69930200-69940800	Weak transcription	HSMM	muscle
5	chr8:69930400-69930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:69930600-69930800	Enhancers	Osteobl	bone
7	chr8:69930600-69938000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:69930800-69942800	Weak transcription	Osteobl	bone
9	chr8:69937600-69938800	Enhancers	Hela-S3	cervix
10	chr8:69937800-69938400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:69937800-69938800	Enhancers	NHEK	skin
12	chr8:69938000-69938200	Enhancers	HMEC	breast
13	chr8:69938000-69938600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:69938000-69938800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:69938000-69939000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:69938400-69940000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:69938600-69942800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:69938800-69939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:69938800-69940000	Weak transcription	NHEK	skin
20	chr8:69939000-69943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:69939800-69941000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:69940000-69941000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:69940000-69941000	Enhancers	NHEK	skin
24	chr8:69940800-69941200	Strong transcription	HSMM	muscle
25	chr8:69941000-69943600	Weak transcription	NHEK	skin
26	chr8:69941000-69951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:69941200-69942000	Weak transcription	HSMM	muscle
28	chr8:69941400-69943200	Enhancers	Brain Hippocampus Middle	brain
29	chr8:69941600-69941800	ZNF genes & repeats	Aorta	Aorta
30	chr8:69941600-69943200	Enhancers	Colon Smooth Muscle	Colon
31	chr8:69941800-69946000	Weak transcription	Aorta	Aorta
32	chr8:69942000-69942200	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:69942000-69942800	Active TSS	Brain Angular Gyrus	brain
34	chr8:69942000-69943000	Strong transcription	HSMM	muscle
35	chr8:69942000-69943200	Enhancers	Fetal Stomach	stomach
36	chr8:69942000-69947200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:69942200-69943000	Active TSS	Brain Anterior Caudate	brain
38	chr8:69942400-69942600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:69942400-69942600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:69942600-69942800	Enhancers	NHDF-Ad	bronchial
41	chr8:69942600-69943000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:69942600-69943400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:69942600-69943400	Enhancers	Fetal Heart	heart
44	chr8:69942600-69947800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:69942800-69943000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:69942800-69943000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:69942800-69943000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:69942800-69943200	Enhancers	Brain Angular Gyrus	brain
49	chr8:69942800-69943200	Active TSS	Brain Cingulate Gyrus	brain
50	chr8:69942800-69943200	Enhancers	Fetal Lung	lung

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