Variant report

Variant	esv3378117
Chromosome Location	chr6:163294662-163297660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190612172	chr6:163294676-163294677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545518254	chr6:163294693-163294694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564918172	chr6:163294769-163294770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575006327	chr6:163294772-163294773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544496106	chr6:163294778-163294779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561206961	chr6:163294783-163294784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534464327	chr6:163294786-163294787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369766171	chr6:163294805-163294806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35558028	chr6:163294815-163294816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560769371	chr6:163294825-163294826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113982426	chr6:163294866-163294867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552295577	chr6:163294884-163294885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568860155	chr6:163294895-163294896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531291540	chr6:163294897-163294898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112034169	chr6:163294921-163294922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544827256	chr6:163294944-163294945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548209565	chr6:163294980-163294981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201684895	chr6:163295172-163295173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547779237	chr6:163295181-163295182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67812561	chr6:163295183-163295184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57708982	chr6:163295184-163295185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199636549	chr6:163295185-163295186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57065566	chr6:163295187-163295188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6908068	chr6:163295230-163295231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145733027	chr6:163295259-163295260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538756012	chr6:163295318-163295319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558669450	chr6:163295349-163295350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373734405	chr6:163295426-163295427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575344785	chr6:163295493-163295494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544170486	chr6:163295605-163295606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1468024	chr6:163295606-163295607	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575014354	chr6:163295679-163295680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540947392	chr6:163295688-163295689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181078496	chr6:163295693-163295694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560516944	chr6:163295742-163295743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528489120	chr6:163295766-163295767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546427701	chr6:163295805-163295806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542527177	chr6:163295807-163295808	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560709448	chr6:163295808-163295809	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548175186	chr6:163295816-163295817	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374111005	chr6:163295825-163295826	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546737245	chr6:163295850-163295851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547718619	chr6:163295876-163295877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570548130	chr6:163295892-163295893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574182282	chr6:163295910-163295911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539580441	chr6:163295913-163295914	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533676707	chr6:163295936-163295937	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377761511	chr6:163295940-163295941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555944623	chr6:163295988-163295989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1567899	chr6:163295993-163295994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163276200-163296200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163286000-163295800	Weak transcription	Fetal Kidney	kidney
3	chr6:163293800-163295600	Weak transcription	Pancreas	Pancrea
4	chr6:163294200-163294800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:163294200-163294800	Enhancers	Adipose Nuclei	Adipose
6	chr6:163294800-163295000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:163295000-163303800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:163295400-163295800	Enhancers	Fetal Muscle Leg	muscle
9	chr6:163295600-163295800	Enhancers	Spleen	Spleen
10	chr6:163295600-163296400	Strong transcription	Pancreas	Pancrea
11	chr6:163295800-163296400	ZNF genes & repeats	Fetal Kidney	kidney
12	chr6:163296000-163296400	Weak transcription	Spleen	Spleen
13	chr6:163296200-163296400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:163296200-163296600	Enhancers	Liver	Liver
15	chr6:163296400-163301800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links