Variant report

Variant	nsv972243
Chromosome Location	chr8:90823430-90834708
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90827177..90828740-chr8:90829992..90832806,2	MCF-7	breast:
2	chr8:90768759..90772975-chr8:90825090..90828579,3	MCF-7	breast:
3	chr8:90812604..90815452-chr8:90823390..90825028,2	MCF-7	breast:
4	chr8:90824515..90827081-chr8:90836313..90840458,3	MCF-7	breast:
5	chr8:90783067..90785641-chr8:90833540..90835924,2	MCF-7	breast:
6	chr8:90827177..90828740-chr8:90829992..90832806,2	MCF-7	breast:
7	chr8:90819524..90821279-chr8:90821317..90823717,2	MCF-7	breast:
8	chr8:90827148..90830083-chr8:90913330..90915459,2	MCF-7	breast:
9	chr8:90768828..90772535-chr8:90829206..90831720,3	MCF-7	breast:
10	chr8:90822864..90823434-chr8:90889018..90889625,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164823	chromatin interactions
ENSG00000104312	chromatin interactions
ENSG00000251136	chromatin interactions

Extended variants
information (count: 443 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560494407	chr8:90823550-90823551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546544647	chr8:90823603-90823604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529277327	chr8:90823670-90823671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568035134	chr8:90823678-90823679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs40457	chr8:90823687-90823688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
6	rs116634811	chr8:90823718-90823719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372503042	chr8:90823758-90823759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546246461	chr8:90823765-90823766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376494275	chr8:90823784-90823785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139359740	chr8:90823790-90823791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559035665	chr8:90823812-90823813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150047538	chr8:90823816-90823817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs392827	chr8:90823817-90823818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs553658220	chr8:90823886-90823887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528592909	chr8:90823894-90823895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575223427	chr8:90823902-90823903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377186157	chr8:90823935-90823936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114660191	chr8:90823947-90823948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183676956	chr8:90824036-90824037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373118793	chr8:90824098-90824099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113847051	chr8:90824149-90824150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7835597	chr8:90824150-90824151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145399685	chr8:90824165-90824166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370981392	chr8:90824194-90824195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188731218	chr8:90824217-90824218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149226173	chr8:90824219-90824220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75013910	chr8:90824224-90824225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143974472	chr8:90824254-90824255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550505836	chr8:90824338-90824339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569926744	chr8:90824348-90824349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537998379	chr8:90824369-90824370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111443242	chr8:90824375-90824376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556397720	chr8:90824377-90824378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574556684	chr8:90824379-90824380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370861131	chr8:90824408-90824409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376788552	chr8:90824425-90824426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200217950	chr8:90824436-90824437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376063728	chr8:90824505-90824506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74637526	chr8:90824517-90824518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561790176	chr8:90824567-90824568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552353176	chr8:90824827-90824828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370437117	chr8:90824864-90824865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534867290	chr8:90824891-90824892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547209819	chr8:90824893-90824894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368006010	chr8:90824918-90824919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs116441836	chr8:90824923-90824924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191634062	chr8:90824995-90824996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372194638	chr8:90825050-90825051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375612855	chr8:90825085-90825086	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368354431	chr8:90825102-90825103	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:90817400-90825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:90818000-90824600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:90818600-90824800	Weak transcription	A549	lung
6	chr8:90822200-90823600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:90822800-90826600	Enhancers	Osteobl	bone
8	chr8:90823000-90824800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:90823200-90823600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:90823200-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:90823400-90824000	Enhancers	NHDF-Ad	bronchial
12	chr8:90823600-90824600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:90823600-90824600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:90824000-90824400	Weak transcription	NHDF-Ad	bronchial
15	chr8:90824000-90836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:90824400-90826200	Enhancers	NHDF-Ad	bronchial
17	chr8:90824600-90825200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:90824600-90825400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:90824600-90825600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:90824600-90825600	Enhancers	NHLF	lung
21	chr8:90824600-90825800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:90824600-90826200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:90824800-90825600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:90824800-90825600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:90824800-90825600	Enhancers	A549	lung
26	chr8:90824800-90825600	Enhancers	NH-A	brain
27	chr8:90824800-90826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:90824800-90826200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:90825000-90825800	Enhancers	NHEK	skin
30	chr8:90825200-90825600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:90825200-90826000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:90825400-90825600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:90825400-90829400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:90825600-90826200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:90825600-90826600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:90825600-90827200	Weak transcription	A549	lung
37	chr8:90825600-90827600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:90825600-90829000	Weak transcription	NH-A	brain
39	chr8:90825800-90827200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:90825800-90827200	Weak transcription	NHEK	skin
41	chr8:90825800-90829000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:90826000-90826800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:90826000-90828800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:90826200-90827200	Weak transcription	NHDF-Ad	bronchial
45	chr8:90826200-90828800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:90826600-90827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:90826600-90827000	Weak transcription	Osteobl	bone
48	chr8:90826800-90829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:90827000-90827800	Enhancers	HMEC	breast
50	chr8:90827000-90828000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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