Variant report

Variant	esv1010089
Chromosome Location	chr6:118451929-118455014
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	chr6:118453596..118455211-chr6:118457163..118459104,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185432043	chr6:118453452-118453453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190747263	chr6:118453474-118453475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368498561	chr6:118453483-118453484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140812974	chr6:118453485-118453486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540572150	chr6:118453506-118453507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192253957	chr6:118453584-118453585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199733544	chr6:118453585-118453586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35339665	chr6:118453592-118453593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541592421	chr6:118453639-118453640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563067264	chr6:118453642-118453643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4945612	chr6:118453643-118453644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150086235	chr6:118453663-118453664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563917540	chr6:118453690-118453691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570015473	chr6:118453730-118453731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74875745	chr6:118453731-118453732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184639351	chr6:118453824-118453825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149319342	chr6:118453832-118453833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143565498	chr6:118453934-118453935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573783649	chr6:118453938-118453939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548751659	chr6:118453994-118453995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11153724	chr6:118454026-118454027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537137758	chr6:118454043-118454044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571272777	chr6:118454067-118454068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552585982	chr6:118454072-118454073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35732343	chr6:118454077-118454078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570733094	chr6:118454078-118454079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534637518	chr6:118454100-118454101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563129759	chr6:118454108-118454109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552867703	chr6:118454121-118454122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188303935	chr6:118454143-118454144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545702728	chr6:118454182-118454183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535273688	chr6:118454214-118454215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112978342	chr6:118454301-118454302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564359310	chr6:118454401-118454402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181121545	chr6:118454496-118454497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575339245	chr6:118454499-118454500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138133486	chr6:118454500-118454501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564142538	chr6:118454568-118454569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546609554	chr6:118454713-118454714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539653062	chr6:118454728-118454729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11759870	chr6:118454741-118454742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78152970	chr6:118454749-118454750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34069698	chr6:118454775-118454776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147274867	chr6:118454777-118454778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548838147	chr6:118454827-118454828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140768723	chr6:118454879-118454880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531060039	chr6:118454938-118454939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78006819	chr6:118454968-118454969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570893086	chr6:118454977-118454978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534721364	chr6:118455000-118455001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	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
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118453400-118456800	Enhancers	Fetal Lung	lung
2	chr6:118454000-118454200	Enhancers	Brain Germinal Matrix	brain
3	chr6:118454000-118454600	Enhancers	Fetal Kidney	kidney
4	chr6:118454000-118457200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:118454000-118457400	Enhancers	Fetal Stomach	stomach
6	chr6:118454000-118460200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:118454200-118454400	Enhancers	Brain Anterior Caudate	brain
8	chr6:118454200-118455200	Weak transcription	Brain Germinal Matrix	brain
9	chr6:118454200-118457200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:118454400-118455400	Weak transcription	Brain Anterior Caudate	brain
11	chr6:118454600-118455000	Weak transcription	Fetal Kidney	kidney
12	chr6:118455000-118455800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:118455000-118455800	Enhancers	Right Atrium	heart
14	chr6:118455000-118456000	Enhancers	Left Ventricle	heart
15	chr6:118455000-118456400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:118455000-118456400	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links