Variant report

Variant	esv2761425
Chromosome Location	chr8:49658066-49669601
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:49664669..49667873-chr8:49830860..49834462,3	MCF-7	breast:
2	chr8:49665639..49667989-chr8:49831682..49833769,2	MCF-7	breast:
3	chr8:49231010..49232106-chr8:49667714..49668868,4	MCF-7	breast:
4	chr8:49668472..49670185-chr8:49677842..49679700,2	K562	blood:
5	chr8:49657699..49660104-chr8:49660800..49663399,2	K562	blood:
6	chr8:49664174..49666927-chr8:49667255..49668931,2	MCF-7	breast:
7	chr8:49668073..49669071-chr8:49837841..49838748,4	MCF-7	breast:
8	chr8:49435353..49436925-chr8:49666877..49668395,2	MCF-7	breast:
9	chr8:49642279..49643892-chr8:49658519..49661469,2	MCF-7	breast:
10	chr8:49657699..49660104-chr8:49660800..49663399,2	K562	blood:
11	chr8:49664174..49666927-chr8:49667255..49668931,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-13	chr8:49666484-49669734	NONHSAT126497
2	lnc-C8orf22-13	chr8:49665514-49665811	NONHSAT126497

No data

Variant related genes	Relation type
ENSG00000034239	chromatin interactions
ENSG00000019549	chromatin interactions

Extended variants
information (count: 408 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:408 , 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	rs10504067	chr8:49658066-49658067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184773735	chr8:49658147-49658148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17706472	chr8:49658172-49658173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377534156	chr8:49658220-49658221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572773014	chr8:49658311-49658312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533863042	chr8:49658318-49658319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558252906	chr8:49658350-49658351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559346237	chr8:49658372-49658373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576809759	chr8:49658374-49658375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4873287	chr8:49658419-49658420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200383274	chr8:49658427-49658428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188144373	chr8:49658428-49658429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376030161	chr8:49658451-49658452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574593716	chr8:49658473-49658474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542409588	chr8:49658475-49658476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192373708	chr8:49658481-49658482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545109755	chr8:49658530-49658531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527971046	chr8:49658544-49658545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12676888	chr8:49658595-49658596	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564314460	chr8:49658633-49658634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571118175	chr8:49658649-49658650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565079787	chr8:49658665-49658666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531779542	chr8:49658686-49658687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549911590	chr8:49658698-49658699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111279056	chr8:49658709-49658710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568176740	chr8:49658771-49658772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142759672	chr8:49658794-49658795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75560729	chr8:49658825-49658826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4873288	chr8:49658894-49658895	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs199647943	chr8:49658908-49658909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533836360	chr8:49658909-49658910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141286879	chr8:49658911-49658912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377498123	chr8:49658919-49658920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183717397	chr8:49658984-49658985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537805139	chr8:49659048-49659049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555900464	chr8:49659073-49659074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189649027	chr8:49659075-49659076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145080332	chr8:49659103-49659104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560655920	chr8:49659130-49659131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572718155	chr8:49659136-49659137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550948476	chr8:49659159-49659160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564755286	chr8:49659160-49659161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531923644	chr8:49659170-49659171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370832037	chr8:49659191-49659192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550119532	chr8:49659205-49659206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561773966	chr8:49659245-49659246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146843523	chr8:49659256-49659257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs5891283	chr8:49659316-49659317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77467007	chr8:49659327-49659328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79167910	chr8:49659365-49659366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49648600-49661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49649800-49660200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:49656800-49662400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:49659200-49661400	Enhancers	Fetal Lung	lung
5	chr8:49660000-49661600	Enhancers	NHLF	lung
6	chr8:49660200-49660400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:49660200-49660400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:49660200-49661000	Enhancers	Pancreas	Pancrea
9	chr8:49660200-49661200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:49660200-49661600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:49660200-49661800	Enhancers	NHDF-Ad	bronchial
12	chr8:49660400-49661000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:49660400-49662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:49660800-49661400	Enhancers	HSMM	muscle
15	chr8:49660800-49661400	Enhancers	HSMMtube	muscle
16	chr8:49660800-49661600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:49660800-49661600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:49660800-49661600	Enhancers	Osteobl	bone
19	chr8:49661000-49661200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:49661000-49661200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:49661000-49661200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:49661000-49661400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:49661000-49668200	Weak transcription	Pancreas	Pancrea
24	chr8:49661200-49661800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:49661200-49662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:49661400-49666000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:49661600-49666000	Weak transcription	Osteobl	bone
28	chr8:49661800-49665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:49662400-49662800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:49662400-49663600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:49662400-49663600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:49662400-49663600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:49662800-49663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:49663400-49663600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:49663600-49664400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:49663600-49664400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:49663600-49666200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:49663600-49669600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:49664400-49665600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:49664400-49669000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:49664600-49664800	Enhancers	Spleen	Spleen
42	chr8:49664800-49665600	Enhancers	Lung	lung
43	chr8:49664800-49669400	Weak transcription	Spleen	Spleen
44	chr8:49665400-49666400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:49665600-49666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:49665600-49669400	Weak transcription	Lung	lung
47	chr8:49666000-49666400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:49666000-49666400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:49666000-49666400	Enhancers	Osteobl	bone
50	chr8:49666000-49666600	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links