Variant report

Variant	nsv969418
Chromosome Location	chr6:73941351-73946146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:73946090-73955774..6:74099986-74112890	K562	blood:
2	6:73946090-73955774..6:74062967-74076046	GM12878	blood:

Variant related genes	Relation type
ENSG00000203908	chromatin interactions
ENSG00000238464	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000080007	chromatin interactions
ENSG00000203909	chromatin interactions
ENSG00000224221	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192166151	chr6:73941363-73941364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531677653	chr6:73941406-73941407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550109994	chr6:73941409-73941410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139988231	chr6:73941443-73941444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141719192	chr6:73941459-73941460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144933219	chr6:73941466-73941467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184970681	chr6:73941501-73941502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565675732	chr6:73941510-73941511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139285798	chr6:73941543-73941544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112463954	chr6:73941581-73941582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535158405	chr6:73941591-73941592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569903699	chr6:73941705-73941706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537206502	chr6:73941756-73941757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189359713	chr6:73941901-73941902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7771861	chr6:73941970-73941971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534722248	chr6:73941973-73941974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145293068	chr6:73941992-73941993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58133822	chr6:73942012-73942013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545509431	chr6:73942031-73942032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557450791	chr6:73942065-73942066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574814671	chr6:73942128-73942129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370574127	chr6:73942136-73942137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576309133	chr6:73942153-73942154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543615490	chr6:73942221-73942222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561852596	chr6:73942252-73942253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117940052	chr6:73942331-73942332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34017102	chr6:73942360-73942361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559553934	chr6:73942375-73942376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373226355	chr6:73942376-73942377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73460451	chr6:73942380-73942381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369143206	chr6:73942384-73942385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75749400	chr6:73942385-73942386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551067899	chr6:73942427-73942428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569363624	chr6:73942430-73942431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144652609	chr6:73942455-73942456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9446874	chr6:73942483-73942484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545628698	chr6:73942487-73942488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368178047	chr6:73942488-73942489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567899149	chr6:73942507-73942508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77292848	chr6:73942508-73942509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192456435	chr6:73942520-73942521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113326288	chr6:73942527-73942528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538988650	chr6:73942567-73942568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557514050	chr6:73942662-73942663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368804085	chr6:73942712-73942713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575776784	chr6:73942780-73942781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555145004	chr6:73942790-73942791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372394107	chr6:73942840-73942841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527378224	chr6:73942851-73942852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543678385	chr6:73942911-73942912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73934000-73972400	Weak transcription	Ovary	ovary
2	chr6:73934200-73941400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:73934200-73941600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:73938600-73943000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:73941000-73941800	Enhancers	Osteobl	bone
6	chr6:73941200-73942200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:73941400-73944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:73941600-73941800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr6:73941600-73942200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:73941600-73947000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:73941800-73942000	Enhancers	NHDF-Ad	bronchial
12	chr6:73941800-73943600	Weak transcription	Osteobl	bone
13	chr6:73942000-73943000	Weak transcription	NHDF-Ad	bronchial
14	chr6:73942200-73945200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:73942600-73942800	Enhancers	NHLF	lung
16	chr6:73942800-73943400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:73943000-73943200	Enhancers	NHDF-Ad	bronchial
18	chr6:73943000-73944000	Weak transcription	NHLF	lung
19	chr6:73943000-73944200	Enhancers	A549	lung
20	chr6:73943000-73944800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:73943000-73946600	Enhancers	Hela-S3	cervix
22	chr6:73943000-73946800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:73943200-73943600	Weak transcription	NHDF-Ad	bronchial
24	chr6:73943200-73945200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:73943400-73944400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:73943400-73944600	Enhancers	NHEK	skin
27	chr6:73943600-73944800	Enhancers	Osteobl	bone
28	chr6:73943600-73946800	Enhancers	NHDF-Ad	bronchial
29	chr6:73943800-73944000	Enhancers	Aorta	Aorta
30	chr6:73943800-73944800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:73943800-73945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:73943800-73945000	Enhancers	HMEC	breast
33	chr6:73943800-73945200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:73943800-73945200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:73944000-73945000	Enhancers	NHLF	lung
36	chr6:73944000-73946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:73944000-73951800	Weak transcription	Aorta	Aorta
38	chr6:73944200-73944600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:73944200-73944600	Enhancers	NH-A	brain
40	chr6:73944400-73944600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:73944600-73945800	Weak transcription	NHEK	skin
42	chr6:73944800-73945200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:73944800-73946400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:73944800-73946400	Weak transcription	Osteobl	bone
45	chr6:73945000-73945200	ZNF genes & repeats	Pancreas	Pancrea
46	chr6:73945000-73946200	Weak transcription	HMEC	breast
47	chr6:73945000-73946400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:73945000-73946400	Weak transcription	NHLF	lung
49	chr6:73945200-73946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:73945200-73946200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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