Variant report

Variant	esv2612629
Chromosome Location	chr3:90437925-90441271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 408 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201303512	chr3:90437930-90437931	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571744348	chr3:90437951-90437952	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531275065	chr3:90437954-90437955	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62265011	chr3:90437965-90437966	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs9849096	chr3:90437979-90437980	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569696958	chr3:90437980-90437981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9866664	chr3:90437988-90437989	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555512453	chr3:90437994-90437995	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200263161	chr3:90437995-90437996	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376856073	chr3:90437999-90438000	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144095783	chr3:90438006-90438007	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557975098	chr3:90438009-90438010	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112047923	chr3:90438019-90438020	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577748488	chr3:90438034-90438035	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543731380	chr3:90438045-90438046	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371492130	chr3:90438048-90438049	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556812998	chr3:90438056-90438057	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199675002	chr3:90438057-90438058	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573710410	chr3:90438064-90438065	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181332852	chr3:90438069-90438070	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185272028	chr3:90438080-90438081	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542569675	chr3:90438087-90438088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190138523	chr3:90438088-90438089	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111884482	chr3:90438102-90438103	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200668839	chr3:90438103-90438104	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374710083	chr3:90438121-90438122	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113224531	chr3:90438124-90438125	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145648661	chr3:90438130-90438131	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148818433	chr3:90438157-90438158	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs114737259	chr3:90438165-90438166	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565508683	chr3:90438173-90438174	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530990002	chr3:90438178-90438179	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs202014554	chr3:90438185-90438186	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567710095	chr3:90438191-90438192	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147173677	chr3:90438192-90438193	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146543776	chr3:90438193-90438194	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142117090	chr3:90438195-90438196	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568181026	chr3:90438207-90438208	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528898337	chr3:90438235-90438236	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549045727	chr3:90438239-90438240	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182765198	chr3:90438262-90438263	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201715113	chr3:90438331-90438332	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534747764	chr3:90438338-90438339	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537132776	chr3:90438363-90438364	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201409600	chr3:90438385-90438386	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551101727	chr3:90438388-90438389	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549719298	chr3:90438395-90438396	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571439318	chr3:90438399-90438400	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556698974	chr3:90438400-90438401	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200041457	chr3:90438403-90438404	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90437400-90445400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr3:90437600-90438800	Active TSS	Fetal Heart	heart
3	chr3:90437800-90444600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr3:90438000-90440600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:90438200-90438800	Enhancers	Dnd41	blood
6	chr3:90438600-90440000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr3:90438800-90440000	ZNF genes & repeats	Dnd41	blood
8	chr3:90439600-90440000	Active TSS	Aorta	Aorta
9	chr3:90439600-90440000	ZNF genes & repeats	Liver	Liver
10	chr3:90439600-90440000	Active TSS	Ovary	ovary
11	chr3:90439600-90440000	Active TSS	Right Atrium	heart
12	chr3:90439600-90440000	Active TSS	Right Ventricle	heart
13	chr3:90439600-90440200	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr3:90439600-90440400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr3:90439600-90440800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr3:90439600-90444000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:90439800-90440000	ZNF genes & repeats	NH-A	brain
18	chr3:90440000-90440800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:90440000-90441000	Weak transcription	Dnd41	blood
20	chr3:90440000-90441800	Weak transcription	Aorta	Aorta
21	chr3:90440000-90441800	Weak transcription	NH-A	brain
22	chr3:90440200-90441800	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:90440800-90441000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:90441000-90441200	Enhancers	Dnd41	blood
25	chr3:90441000-90441800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:90441200-90441600	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links