Variant report

Variant	esv3333656
Chromosome Location	chr2:132986437-132987397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201869976	chr2:132986451-132986452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373355576	chr2:132986462-132986463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528882756	chr2:132986469-132986470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200129289	chr2:132986476-132986477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377072414	chr2:132986479-132986480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201133775	chr2:132986480-132986481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112844393	chr2:132986492-132986493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569464360	chr2:132986493-132986494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372980660	chr2:132986494-132986495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113430391	chr2:132986496-132986497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202022002	chr2:132986508-132986509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539714243	chr2:132986509-132986510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551643599	chr2:132986516-132986517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201225953	chr2:132986536-132986537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370779870	chr2:132986551-132986552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186371564	chr2:132986552-132986553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566766495	chr2:132986571-132986572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189597477	chr2:132986576-132986577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201623033	chr2:132986587-132986588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112340485	chr2:132986591-132986592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201148596	chr2:132986598-132986599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111286201	chr2:132986603-132986604	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575351976	chr2:132986613-132986614	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531186271	chr2:132986630-132986631	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567712116	chr2:132986644-132986645	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537869150	chr2:132986647-132986648	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76608708	chr2:132986653-132986654	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549779422	chr2:132986654-132986655	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200502169	chr2:132986688-132986689	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578056984	chr2:132986694-132986695	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113172540	chr2:132986737-132986738	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546151798	chr2:132986742-132986743	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111291995	chr2:132986756-132986757	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200884378	chr2:132986772-132986773	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558074186	chr2:132986773-132986774	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573122016	chr2:132986786-132986787	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573123694	chr2:132986788-132986789	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113594485	chr2:132986789-132986790	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540373263	chr2:132986794-132986795	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561635063	chr2:132986804-132986805	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528946992	chr2:132986814-132986815	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199523203	chr2:132986817-132986818	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543884980	chr2:132986823-132986824	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562180664	chr2:132986827-132986828	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78908656	chr2:132986828-132986829	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74719287	chr2:132986829-132986830	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79488518	chr2:132986836-132986837	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551704348	chr2:132986837-132986838	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186802602	chr2:132986866-132986867	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201825214	chr2:132986871-132986872	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132984000-132994800	Weak transcription	K562	blood
3	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:132985400-132986600	Weak transcription	Dnd41	blood
5	chr2:132985400-132986800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:132985400-132986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:132985400-132986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:132985400-132986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:132985400-132986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:132985400-132986800	Weak transcription	Liver	Liver
11	chr2:132985400-132986800	Weak transcription	Fetal Brain Male	brain
12	chr2:132985400-132986800	Weak transcription	Psoas Muscle	Psoas
13	chr2:132985400-132987000	Weak transcription	NH-A	brain
14	chr2:132985400-132987600	Weak transcription	HSMMtube	muscle
15	chr2:132985400-132987600	Weak transcription	HUVEC	blood vessel
16	chr2:132985600-132987400	Weak transcription	Osteobl	bone
17	chr2:132986200-132986600	Weak transcription	Aorta	Aorta
18	chr2:132986600-132986800	Enhancers	Aorta	Aorta
19	chr2:132986600-132988400	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr2:132986600-132988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr2:132986800-132987000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:132986800-132987000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:132986800-132987000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
24	chr2:132986800-132987000	ZNF genes & repeats	Dnd41	blood
25	chr2:132986800-132987200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr2:132986800-132987200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:132986800-132987200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:132986800-132987200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:132986800-132987200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:132986800-132987200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr2:132986800-132987200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr2:132986800-132987200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:132986800-132987200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:132986800-132987200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr2:132986800-132987200	Flanking Active TSS	Aorta	Aorta
39	chr2:132986800-132987200	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr2:132986800-132987200	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr2:132986800-132987200	ZNF genes & repeats	Fetal Kidney	kidney
42	chr2:132986800-132987200	ZNF genes & repeats	Gastric	stomach
43	chr2:132986800-132987200	Active TSS	Psoas Muscle	Psoas
44	chr2:132986800-132987200	ZNF genes & repeats	Small Intestine	intestine
45	chr2:132986800-132987400	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr2:132986800-132987600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr2:132986800-132988000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:132986800-132988000	ZNF genes & repeats	Left Ventricle	heart
49	chr2:132986800-132988200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr2:132986800-132988200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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