Variant report

Variant	esv3356919
Chromosome Location	chr2:190396757-190398755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190398000..190401261-chr2:190402799..190406846,4	K562	blood:
2	chr2:190397457..190400207-chr2:190405459..190407233,2	MCF-7	breast:
3	chr2:190393193..190396914-chr2:190397401..190400008,4	MCF-7	breast:
4	chr2:190393193..190396914-chr2:190397401..190400008,4	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116546200	chr2:190396766-190396767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569580479	chr2:190396858-190396859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376876801	chr2:190396878-190396879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539441491	chr2:190396985-190396986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187856318	chr2:190397008-190397009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13032311	chr2:190397020-190397021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs66883355	chr2:190397021-190397022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555106625	chr2:190397030-190397031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573512913	chr2:190397064-190397065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537703595	chr2:190397065-190397066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556184493	chr2:190397091-190397092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573937469	chr2:190397160-190397161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577911955	chr2:190397163-190397164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555583759	chr2:190397220-190397221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544663881	chr2:190397268-190397269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560122491	chr2:190397271-190397272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572144961	chr2:190397293-190397294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542761540	chr2:190397352-190397353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192190911	chr2:190397362-190397363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529505941	chr2:190397369-190397370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555062058	chr2:190397382-190397383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551196585	chr2:190397386-190397387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112323311	chr2:190397410-190397411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373601220	chr2:190397415-190397416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201375397	chr2:190397432-190397433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs68179373	chr2:190397433-190397434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149015557	chr2:190397434-190397435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34783775	chr2:190397435-190397436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374396455	chr2:190397474-190397475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13007486	chr2:190397484-190397485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71407839	chr2:190397514-190397515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527740902	chr2:190397526-190397527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549071000	chr2:190397527-190397528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35574177	chr2:190397529-190397530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs57011325	chr2:190397541-190397542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5024105	chr2:190397544-190397545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184809317	chr2:190397571-190397572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5837149	chr2:190397583-190397584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59054046	chr2:190397586-190397587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4998361	chr2:190397589-190397590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61701338	chr2:190397601-190397602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373589662	chr2:190397603-190397604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2028365	chr2:190397632-190397633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372707904	chr2:190397644-190397645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375948082	chr2:190397672-190397673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369654213	chr2:190397673-190397674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184749700	chr2:190397675-190397676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371940086	chr2:190397688-190397689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71020997	chr2:190397695-190397696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189156102	chr2:190397701-190397702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190386600-190398200	Weak transcription	Aorta	Aorta
2	chr2:190387600-190397000	Weak transcription	Placenta	Placenta
3	chr2:190390000-190397200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:190392000-190397000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:190392400-190398000	Weak transcription	Stomach Mucosa	stomach
6	chr2:190392400-190398200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:190392400-190399600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:190392400-190406400	Weak transcription	Small Intestine	intestine
9	chr2:190392600-190397200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:190392600-190397800	Weak transcription	HepG2	liver
11	chr2:190392600-190398000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:190393000-190399400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:190393000-190399800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:190393200-190397200	Weak transcription	Ovary	ovary
15	chr2:190393200-190398000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190393400-190398200	Weak transcription	Adipose Nuclei	Adipose
17	chr2:190393600-190397000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:190393600-190398000	Weak transcription	HSMM	muscle
19	chr2:190393600-190398200	Weak transcription	Fetal Lung	lung
20	chr2:190393800-190397800	Weak transcription	HSMMtube	muscle
21	chr2:190393800-190398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:190393800-190398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:190395400-190397400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:190396200-190398000	Weak transcription	A549	lung
25	chr2:190396400-190397200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:190396800-190397000	Weak transcription	Psoas Muscle	Psoas
27	chr2:190397000-190397200	Enhancers	Psoas Muscle	Psoas
28	chr2:190397000-190397200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:190397000-190397400	Enhancers	Placenta	Placenta
30	chr2:190397000-190400600	Enhancers	Fetal Intestine Small	intestine
31	chr2:190397200-190397400	Enhancers	Ovary	ovary
32	chr2:190397200-190397600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:190397200-190398200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:190397200-190399200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:190397200-190400400	Enhancers	Fetal Intestine Large	intestine
36	chr2:190397200-190400400	Weak transcription	Psoas Muscle	Psoas
37	chr2:190397400-190397800	Weak transcription	Ovary	ovary
38	chr2:190397400-190398200	Weak transcription	Placenta	Placenta
39	chr2:190397400-190398600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:190397600-190399200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:190397800-190398800	Enhancers	Ovary	ovary
42	chr2:190397800-190400200	Enhancers	HepG2	liver
43	chr2:190397800-190400400	Enhancers	HSMMtube	muscle
44	chr2:190398000-190398400	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:190398000-190398400	Enhancers	Stomach Mucosa	stomach
46	chr2:190398000-190398800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:190398000-190399200	Enhancers	A549	lung
48	chr2:190398000-190400200	Enhancers	HSMM	muscle
49	chr2:190398000-190400400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:190398000-190400400	Enhancers	NHLF	lung

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