Variant report

Variant	esv2762618
Chromosome Location	chr6:142969785-142972917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs9376702	chr6:142969785-142969786	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192594343	chr6:142969804-142969805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371370530	chr6:142969910-142969911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184370288	chr6:142969959-142969960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527399104	chr6:142969968-142969969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547029571	chr6:142969989-142969990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189022705	chr6:142970001-142970002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567378424	chr6:142970003-142970004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560490941	chr6:142970050-142970051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182174041	chr6:142970055-142970056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374582342	chr6:142970102-142970103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556227730	chr6:142970161-142970162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529302217	chr6:142970171-142970172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184650394	chr6:142970189-142970190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35535863	chr6:142970196-142970197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552102310	chr6:142970197-142970198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557741187	chr6:142970252-142970253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6906818	chr6:142970259-142970260	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141480721	chr6:142970267-142970268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74755411	chr6:142970287-142970288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574183613	chr6:142970298-142970299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146930163	chr6:142970322-142970323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563221661	chr6:142970325-142970326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114436920	chr6:142970328-142970329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544978630	chr6:142970330-142970331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137857328	chr6:142970366-142970367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75502093	chr6:142970370-142970371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548840835	chr6:142970372-142970373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567448465	chr6:142970388-142970389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189977541	chr6:142970406-142970407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549953036	chr6:142970414-142970415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35983407	chr6:142970417-142970418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571169846	chr6:142970435-142970436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180733056	chr6:142970456-142970457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141969854	chr6:142970494-142970495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566553123	chr6:142970549-142970550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79344294	chr6:142970591-142970592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112091792	chr6:142970610-142970611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113924441	chr6:142970660-142970661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7767308	chr6:142970691-142970692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7749392	chr6:142970693-142970694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538005989	chr6:142970713-142970714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556803991	chr6:142970724-142970725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185162596	chr6:142970747-142970748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9403403	chr6:142970754-142970755	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560175165	chr6:142970755-142970756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190711696	chr6:142970758-142970759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571987367	chr6:142970774-142970775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181904469	chr6:142970778-142970779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560777976	chr6:142970792-142970793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142967200-142973600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:142967200-142973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:142967200-142975800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:142967400-142971800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:142967600-142971200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:142968000-142972800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:142968200-142970000	Enhancers	Fetal Lung	lung
8	chr6:142968400-142973200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:142968600-142970000	Enhancers	HepG2	liver
10	chr6:142969000-142969800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:142969000-142969800	Enhancers	Primary T cells from cord blood	blood
12	chr6:142969000-142969800	Enhancers	Fetal Intestine Large	intestine
13	chr6:142969200-142970000	Weak transcription	Pancreas	Pancrea
14	chr6:142969400-142969800	Active TSS	Liver	Liver
15	chr6:142969400-142973400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:142969600-142970000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:142969600-142972400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:142969600-142972600	Weak transcription	Fetal Brain Male	brain
19	chr6:142969800-142970000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:142969800-142970200	Enhancers	Liver	Liver
21	chr6:142970000-142970400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:142970400-142971200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:142971000-142971400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:142971200-142972600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:142971200-142972600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:142971400-142974800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:142971800-142975600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:142972200-142972800	Enhancers	Fetal Brain Female	brain
29	chr6:142972400-142972800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:142972600-142973000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:142972600-142973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:142972600-142976000	Enhancers	Fetal Brain Male	brain
33	chr6:142972800-142973400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:142972800-142973800	Weak transcription	Fetal Brain Female	brain

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