Variant report

Variant	esv3440010
Chromosome Location	chr3:69568087-69570635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111394666	chr3:69568120-69568121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558273198	chr3:69568124-69568125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574981534	chr3:69568126-69568127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193113628	chr3:69568127-69568128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35339106	chr3:69568135-69568136	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4317106	chr3:69568255-69568256	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369068311	chr3:69568279-69568280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542912230	chr3:69568294-69568295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116199423	chr3:69568295-69568296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570186221	chr3:69568352-69568353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534331322	chr3:69568363-69568364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545410505	chr3:69568419-69568420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185521151	chr3:69568424-69568425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573734543	chr3:69568446-69568447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372912461	chr3:69568472-69568473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189083046	chr3:69568545-69568546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550815717	chr3:69568559-69568560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560882787	chr3:69568594-69568595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376894322	chr3:69568604-69568605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9881752	chr3:69568681-69568682	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546528501	chr3:69568684-69568685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539074389	chr3:69568704-69568705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113628424	chr3:69568722-69568723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192335110	chr3:69568730-69568731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551735457	chr3:69568744-69568745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568636630	chr3:69568757-69568758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537515436	chr3:69568819-69568820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72937439	chr3:69568821-69568822	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369251522	chr3:69568845-69568846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562760652	chr3:69568873-69568874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567707656	chr3:69568888-69568889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536851485	chr3:69568894-69568895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553431038	chr3:69568950-69568951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573466963	chr3:69568987-69568988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533272691	chr3:69569032-69569033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112486262	chr3:69569036-69569037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377713857	chr3:69569148-69569149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201322258	chr3:69569149-69569150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59007939	chr3:69569153-69569154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57159741	chr3:69569154-69569155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56940736	chr3:69569164-69569165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60492737	chr3:69569166-69569167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528526551	chr3:69569182-69569183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537362086	chr3:69569187-69569188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571928144	chr3:69569191-69569192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71626381	chr3:69569195-69569196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35097388	chr3:69569200-69569201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374712667	chr3:69569220-69569221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71626382	chr3:69569250-69569251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13084424	chr3:69569257-69569258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69560000-69584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:69560400-69575000	Weak transcription	Fetal Heart	heart
3	chr3:69561000-69570200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:69564400-69573800	Weak transcription	HMEC	breast
5	chr3:69567000-69570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:69567200-69571800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:69567600-69568200	Enhancers	Fetal Lung	lung
8	chr3:69567600-69568400	Strong transcription	NHEK	skin
9	chr3:69567800-69568800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:69567800-69572400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:69568200-69570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:69568200-69574000	Weak transcription	Fetal Lung	lung
13	chr3:69568400-69568600	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:69568400-69568600	Enhancers	Right Atrium	heart
15	chr3:69568400-69573800	Weak transcription	NHEK	skin
16	chr3:69568600-69570000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:69568600-69571000	Weak transcription	Right Atrium	heart
18	chr3:69568800-69571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:69570000-69570800	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:69570000-69572000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:69570200-69570400	Enhancers	Lung	lung
22	chr3:69570200-69572000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:69570400-69575000	Weak transcription	Lung	lung
24	chr3:69570600-69571000	Enhancers	Monocytes-CD14+_RO01746	blood

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