Variant report

Variant	esv3340529
Chromosome Location	chr2:132977619-132980529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376475278	chr2:132977619-132977620	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs199597979	chr2:132977621-132977622	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs201856672	chr2:132977626-132977627	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs540457686	chr2:132977628-132977629	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs561854443	chr2:132977631-132977632	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs564125730	chr2:132977633-132977634	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs199621763	chr2:132977641-132977642	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs77116670	chr2:132977651-132977652	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs76283579	chr2:132977655-132977656	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs62165522	chr2:132977669-132977670	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs199878404	chr2:132977681-132977682	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs113646282	chr2:132977686-132977687	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs376187510	chr2:132977693-132977694	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs112645309	chr2:132977695-132977696	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs529299382	chr2:132977697-132977698	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs201482287	chr2:132977709-132977710	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs144202090	chr2:132977710-132977711	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs186167658	chr2:132977715-132977716	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs145900489	chr2:132977723-132977724	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs374208279	chr2:132977727-132977728	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs562507755	chr2:132977733-132977734	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs74646997	chr2:132977747-132977748	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs552472997	chr2:132977753-132977754	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs202117325	chr2:132977756-132977757	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs138684649	chr2:132977757-132977758	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs149999625	chr2:132977758-132977759	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs570652515	chr2:132977765-132977766	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs566436674	chr2:132977805-132977806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201223532	chr2:132977807-132977808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113770103	chr2:132977810-132977811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534859425	chr2:132977814-132977815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375396097	chr2:132977815-132977816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367864765	chr2:132977817-132977818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181933693	chr2:132977818-132977819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186589384	chr2:132977821-132977822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371263722	chr2:132977822-132977823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376154688	chr2:132977826-132977827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369179424	chr2:132977828-132977829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373688424	chr2:132977834-132977835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377122728	chr2:132977846-132977847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368205352	chr2:132977854-132977855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185433964	chr2:132977863-132977864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190536269	chr2:132977865-132977866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137964646	chr2:132977893-132977894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370848881	chr2:132977929-132977930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375442078	chr2:132977947-132977948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557013844	chr2:132977954-132977955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549033720	chr2:132977967-132977968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567361079	chr2:132977969-132977970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539043309	chr2:132977987-132977988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132974400-132977800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:132974400-132977800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:132974600-132977800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr2:132975600-132977800	ZNF genes & repeats	Fetal Brain Male	brain
5	chr2:132975800-132977800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr2:132975800-132977800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr2:132975800-132977800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr2:132976000-132977800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr2:132976000-132977800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr2:132976200-132977800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:132976200-132977800	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr2:132976800-132996200	Weak transcription	NHEK	skin
13	chr2:132977200-132980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:132977400-132980600	Weak transcription	K562	blood
15	chr2:132977600-132977800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:132977600-132977800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:132977600-132977800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
18	chr2:132977600-132977800	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr2:132977600-132977800	ZNF genes & repeats	Fetal Heart	heart
20	chr2:132977600-132977800	ZNF genes & repeats	HUVEC	blood vessel
21	chr2:132977600-132977800	ZNF genes & repeats	Osteobl	bone
22	chr2:132977800-132980200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:132977800-132980400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:132977800-132980400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:132977800-132980400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:132977800-132980400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:132977800-132980600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:132977800-132980600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:132977800-132980600	Weak transcription	Primary T cells from cord blood	blood
30	chr2:132977800-132980600	Weak transcription	Fetal Brain Male	brain
31	chr2:132977800-132980600	Weak transcription	Fetal Heart	heart
32	chr2:132977800-132980600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:132977800-132980600	Weak transcription	HUVEC	blood vessel
34	chr2:132977800-132980600	Weak transcription	Osteobl	bone
35	chr2:132980400-132981400	ZNF genes & repeats	Liver	Liver
36	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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