Variant report

Variant	esv2763593
Chromosome Location	chr6:117727550-117741495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117738757..117741446-chr6:117744839..117746774,2	K562	blood:
2	chr6:117732882..117736812-chr6:117738044..117741372,3	K562	blood:
3	chr6:117736654..117739264-chr6:117740567..117742292,2	K562	blood:
4	chr6:117732882..117736812-chr6:117738044..117741372,3	K562	blood:
5	chr6:117736654..117739264-chr6:117740567..117742292,2	K562	blood:

Extended variants
information (count: 581 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:581 , 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	rs41444649	chr6:117727550-117727551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546535278	chr6:117727577-117727578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561534591	chr6:117727626-117727627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576549857	chr6:117727647-117727648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146203367	chr6:117727659-117727660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550239628	chr6:117727677-117727678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568632721	chr6:117727737-117727738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182786901	chr6:117727765-117727766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371963748	chr6:117727792-117727793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551364434	chr6:117727864-117727865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71570849	chr6:117727865-117727866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs765515	chr6:117727922-117727923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540979708	chr6:117727946-117727947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7776244	chr6:117727949-117727950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs187471695	chr6:117727950-117727951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557459108	chr6:117727996-117727997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575705135	chr6:117728012-117728013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545833447	chr6:117728028-117728029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564500329	chr6:117728038-117728039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572244399	chr6:117728110-117728111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs765516	chr6:117728118-117728119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs561673544	chr6:117728127-117728128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193044325	chr6:117728131-117728132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375630797	chr6:117728186-117728187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2354343	chr6:117728187-117728188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2354344	chr6:117728188-117728189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398094520	chr6:117728190-117728191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80052312	chr6:117728233-117728234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533049382	chr6:117728272-117728273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367935211	chr6:117728275-117728276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576006790	chr6:117728289-117728290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551229069	chr6:117728437-117728438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74501607	chr6:117728449-117728450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558136323	chr6:117728460-117728461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533581565	chr6:117728470-117728471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537382982	chr6:117728510-117728511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568788931	chr6:117728527-117728528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371778529	chr6:117728548-117728549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577716061	chr6:117728553-117728554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142527587	chr6:117728557-117728558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545133879	chr6:117728585-117728586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185260460	chr6:117728587-117728588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569399356	chr6:117728598-117728599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539910543	chr6:117728674-117728675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558002766	chr6:117728704-117728705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375065720	chr6:117728716-117728717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540251128	chr6:117728776-117728777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564977899	chr6:117728778-117728779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555206813	chr6:117728800-117728801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34713199	chr6:117728807-117728808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117692600-117735800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:117716600-117730600	Weak transcription	HSMM	muscle
3	chr6:117718200-117728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:117723200-117737600	Weak transcription	Lung	lung
5	chr6:117728200-117729000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:117729000-117732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:117730600-117731400	Strong transcription	HSMM	muscle
8	chr6:117731000-117732200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:117731400-117732600	Weak transcription	HSMM	muscle
10	chr6:117731600-117732000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:117731800-117732400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:117731800-117732400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:117732400-117737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:117732600-117733000	Enhancers	HSMM	muscle
15	chr6:117732600-117733000	Enhancers	HSMMtube	muscle
16	chr6:117732600-117733200	Enhancers	HMEC	breast
17	chr6:117732600-117733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:117733000-117735600	Weak transcription	HSMM	muscle
19	chr6:117733000-117735800	Weak transcription	HSMMtube	muscle
20	chr6:117733200-117735800	Weak transcription	HMEC	breast
21	chr6:117733400-117735800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:117735200-117736600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:117735600-117736600	Enhancers	HSMM	muscle
24	chr6:117735800-117736200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:117735800-117736400	Enhancers	HepG2	liver
26	chr6:117735800-117736600	Enhancers	HMEC	breast
27	chr6:117735800-117736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:117735800-117736800	Enhancers	HSMMtube	muscle
29	chr6:117736600-117744400	Weak transcription	HSMM	muscle
30	chr6:117736800-117737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:117737200-117737600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:117737400-117739400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:117737600-117738000	Enhancers	Lung	lung
34	chr6:117739000-117740000	Enhancers	Fetal Intestine Large	intestine
35	chr6:117739400-117740600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:117739400-117745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:117739600-117740000	Enhancers	Fetal Intestine Small	intestine
38	chr6:117740000-117741200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links