Variant report

Variant	nsv397277
Chromosome Location	chr8:104368395-104374284
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104367758..104370147-chr8:104374121..104376072,2	MCF-7	breast:
2	chr8:104367758..104370147-chr8:104374121..104376072,2	MCF-7	breast:
3	chr8:104365548..104368445-chr8:104370555..104373478,2	K562	blood:
4	chr8:104363177..104365270-chr8:104368358..104371064,2	MCF-7	breast:
5	chr8:104365548..104368445-chr8:104370555..104373478,2	K562	blood:
6	chr8:104365094..104368478-chr8:104368534..104371541,4	MCF-7	breast:
7	chr8:104367544..104369608-chr8:104383026..104384896,2	MCF-7	breast:
8	chr8:104365094..104368478-chr8:104368534..104371541,4	MCF-7	breast:
9	chr8:104310756..104313273-chr8:104365945..104369337,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTHRC1-1	chr8:104369499-104370036	NONHSAT128179

No data

Variant related genes	Relation type
ENSG00000164930	chromatin interactions
ENSG00000164932	chromatin interactions
ENSG00000247081	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536241854	chr8:104368402-104368403	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554903446	chr8:104368417-104368418	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150813184	chr8:104368422-104368423	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6992964	chr8:104368442-104368443	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139254238	chr8:104368453-104368454	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs577892255	chr8:104368461-104368462	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs545259549	chr8:104368470-104368471	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs6992876	chr8:104368582-104368583	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143897989	chr8:104368632-104368633	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539999971	chr8:104368636-104368637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs17802416	chr8:104368673-104368674	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs3133839	chr8:104368698-104368699	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs111866020	chr8:104368757-104368758	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs546859907	chr8:104368771-104368772	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543328263	chr8:104368822-104368823	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs565264052	chr8:104368823-104368824	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532550853	chr8:104368853-104368854	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs6997144	chr8:104368959-104368960	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569248927	chr8:104368971-104368972	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs199964240	chr8:104368999-104369000	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs78432970	chr8:104369009-104369010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs139643786	chr8:104369016-104369017	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566844707	chr8:104369042-104369043	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534213812	chr8:104369060-104369061	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs142953567	chr8:104369068-104369069	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs553289944	chr8:104369135-104369136	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538831411	chr8:104369164-104369165	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs59880568	chr8:104369165-104369166	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs719841	chr8:104369207-104369208	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs542674920	chr8:104369277-104369278	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs554391894	chr8:104369299-104369300	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs572484635	chr8:104369304-104369305	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs539878397	chr8:104369310-104369311	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs60266328	chr8:104369311-104369312	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145269658	chr8:104369335-104369336	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs544588333	chr8:104369342-104369343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563064123	chr8:104369371-104369372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144136511	chr8:104369403-104369404	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548639904	chr8:104369459-104369460	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs719842	chr8:104369485-104369486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74806120	chr8:104369491-104369492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552648038	chr8:104369523-104369524	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs2272101	chr8:104369547-104369548	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530906088	chr8:104369566-104369567	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs538888685	chr8:104369626-104369627	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs186496000	chr8:104369678-104369679	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs569007338	chr8:104369694-104369695	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs375960105	chr8:104369696-104369697	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs115785490	chr8:104369697-104369698	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554229200	chr8:104369726-104369727	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104357800-104383400	Weak transcription	Aorta	Aorta
2	chr8:104363000-104369200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:104363000-104371800	Weak transcription	HSMMtube	muscle
4	chr8:104363200-104372200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104363600-104369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:104364000-104369200	Weak transcription	Fetal Stomach	stomach
7	chr8:104364200-104368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:104365600-104369400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:104366800-104369200	Weak transcription	Thymus	Thymus
10	chr8:104366800-104372000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:104366800-104372000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:104367000-104368800	Weak transcription	Fetal Thymus	thymus
13	chr8:104367000-104371800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:104367200-104372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:104368600-104369400	Enhancers	Brain Hippocampus Middle	brain
16	chr8:104368800-104370400	Enhancers	Brain Substantia Nigra	brain
17	chr8:104368800-104370600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:104368800-104370600	Enhancers	Brain Anterior Caudate	brain
19	chr8:104368800-104370600	Enhancers	Fetal Thymus	thymus
20	chr8:104368800-104370800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:104369000-104369800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:104369000-104370400	Enhancers	Brain Angular Gyrus	brain
23	chr8:104369000-104370600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:104369200-104369400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:104369200-104369400	Enhancers	NH-A	brain
26	chr8:104369200-104370200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:104369200-104370400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:104369200-104370400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:104369200-104370400	Enhancers	Fetal Stomach	stomach
30	chr8:104369200-104370400	Enhancers	Thymus	Thymus
31	chr8:104369400-104369800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:104369400-104369800	Flanking Active TSS	NH-A	brain
33	chr8:104369400-104370000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr8:104369400-104370000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:104369400-104370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:104369400-104370200	Enhancers	Osteobl	bone
37	chr8:104369400-104370400	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:104369600-104370200	Enhancers	NHDF-Ad	bronchial
39	chr8:104369800-104370000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:104369800-104370200	Enhancers	NH-A	brain
41	chr8:104369800-104370400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:104369800-104370600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:104370000-104370400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:104370000-104370600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:104370000-104370600	Enhancers	Brain Hippocampus Middle	brain
46	chr8:104370200-104370400	Enhancers	Left Ventricle	heart
47	chr8:104370400-104371800	Weak transcription	Left Ventricle	heart
48	chr8:104370400-104372200	Weak transcription	Thymus	Thymus
49	chr8:104370600-104372400	Weak transcription	Fetal Thymus	thymus
50	chr8:104370600-104375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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