Variant report

Variant	nsv215415
Chromosome Location	chr2:205919161-205921637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2021543	chr2:205919161-205919162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181258024	chr2:205919217-205919218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559434681	chr2:205919276-205919277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577545853	chr2:205919294-205919295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187125979	chr2:205919323-205919324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563153610	chr2:205919334-205919335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531991023	chr2:205919343-205919344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189814506	chr2:205919358-205919359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561941572	chr2:205919388-205919389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182485715	chr2:205919403-205919404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386654367	chr2:205919418-205919419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114234331	chr2:205919420-205919421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531434057	chr2:205919432-205919433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539569067	chr2:205919441-205919442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551715362	chr2:205919442-205919443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569957465	chr2:205919506-205919507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537342585	chr2:205919574-205919575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116801001	chr2:205919592-205919593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573867556	chr2:205919633-205919634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570209357	chr2:205919649-205919650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534843214	chr2:205919699-205919700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549973239	chr2:205919702-205919703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1980022	chr2:205919713-205919714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567882595	chr2:205919779-205919780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552915119	chr2:205919787-205919788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577633341	chr2:205919796-205919797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530145587	chr2:205919912-205919913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148031843	chr2:205919927-205919928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143677779	chr2:205919946-205919947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77061515	chr2:205919952-205919953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531789392	chr2:205919991-205919992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113737497	chr2:205920049-205920050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562077825	chr2:205920067-205920068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140620342	chr2:205920082-205920083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547555659	chr2:205920096-205920097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566571294	chr2:205920102-205920103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190980045	chr2:205920123-205920124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145334551	chr2:205920163-205920164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78980644	chr2:205920184-205920185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182403451	chr2:205920259-205920260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4673312	chr2:205920263-205920264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10198599	chr2:205920351-205920352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs367591118	chr2:205920359-205920360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185305255	chr2:205920383-205920384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534933947	chr2:205920391-205920392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191585775	chr2:205920430-205920431	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374951714	chr2:205920567-205920568	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182807988	chr2:205920587-205920588	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552135849	chr2:205920611-205920612	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73055002	chr2:205920630-205920631	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
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
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205899800-205920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:205900400-205920600	Weak transcription	Aorta	Aorta
3	chr2:205906800-205919600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:205912200-205920200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:205912600-205924600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:205913200-205920600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:205913400-205920600	Weak transcription	HSMM	muscle
8	chr2:205916800-205920800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:205917000-205919400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:205917400-205921400	Enhancers	Fetal Heart	heart
11	chr2:205918000-205920000	Enhancers	Fetal Lung	lung
12	chr2:205918200-205919600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:205918200-205919800	Enhancers	Ovary	ovary
14	chr2:205918400-205919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:205918600-205919800	Enhancers	NHLF	lung
16	chr2:205918800-205919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:205918800-205919600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:205918800-205919600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:205918800-205919600	Weak transcription	Fetal Stomach	stomach
20	chr2:205918800-205920600	Weak transcription	HSMMtube	muscle
21	chr2:205919000-205919400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:205919000-205919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:205919000-205920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:205919200-205919400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:205919400-205919600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:205919400-205919800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:205919400-205920000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:205919400-205920000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:205919400-205920600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:205919400-205920600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:205919400-205921200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:205919600-205919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:205919600-205919800	Enhancers	Fetal Stomach	stomach
34	chr2:205919600-205920600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:205919600-205920600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:205919600-205924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:205919800-205920400	Weak transcription	NHLF	lung
38	chr2:205919800-205920600	Weak transcription	Fetal Stomach	stomach
39	chr2:205919800-205920600	Weak transcription	Ovary	ovary
40	chr2:205919800-205923600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:205920000-205920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:205920000-205920400	Weak transcription	Fetal Lung	lung
43	chr2:205920200-205920400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:205920200-205920600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:205920400-205920600	Active TSS	Fetal Lung	lung
46	chr2:205920400-205920600	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:205920400-205920800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:205920400-205920800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:205920400-205921200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:205920400-205921400	Active TSS	NHDF-Ad	bronchial

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