Variant report

Variant	nsv519299
Chromosome Location	chr2:190150205-190151140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190087466..190090346-chr2:190148672..190151105,2	MCF-7	breast:
2	chr2:190143476..190146248-chr2:190148193..190151075,3	MCF-7	breast:
3	chr2:190008421..190011287-chr2:190151088..190152689,2	MCF-7	breast:
4	chr2:190139713..190141267-chr2:190148148..190150261,2	MCF-7	breast:
5	chr2:190090705..190091250-chr2:190150007..190150646,2	MCF-7	breast:
6	chr2:190014552..190015249-chr2:190149953..190150734,2	MCF-7	breast:
7	chr2:190118168..190119811-chr2:190148102..190150928,2	MCF-7	breast:
8	chr2:190088767..190093088-chr2:190148429..190152827,7	MCF-7	breast:
9	chr2:190007040..190008928-chr2:190150245..190153733,35	MCF-7	breast:
10	chr2:190086588..190088332-chr2:190150217..190152218,2	MCF-7	breast:
11	chr2:190029422..190031666-chr2:190149954..190151681,2	MCF-7	breast:

No data

Extended variants
information (count: 25 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16831319	chr2:190150205-190150206	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532980349	chr2:190150298-190150299	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550941400	chr2:190150304-190150305	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141913057	chr2:190150314-190150315	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79936047	chr2:190150325-190150326	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548825387	chr2:190150344-190150345	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528978868	chr2:190150402-190150403	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146393848	chr2:190150485-190150486	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537642282	chr2:190150488-190150489	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17198829	chr2:190150498-190150499	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569237013	chr2:190150506-190150507	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191252735	chr2:190150556-190150557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558204861	chr2:190150580-190150581	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28368169	chr2:190150592-190150593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370281465	chr2:190150814-190150815	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540935100	chr2:190150862-190150863	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76282134	chr2:190150895-190150896	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74461812	chr2:190150929-190150930	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188970634	chr2:190150940-190150941	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368189309	chr2:190150945-190150946	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73982010	chr2:190151026-190151027	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569380550	chr2:190151032-190151033	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562634723	chr2:190151091-190151092	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549149944	chr2:190151123-190151124	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs939157	chr2:190151140-190151141	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190149000-190150800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:190149200-190151000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:190149200-190153800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:190149400-190150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:190149400-190150800	Enhancers	Osteobl	bone
6	chr2:190149400-190152400	Enhancers	Hela-S3	cervix
7	chr2:190149400-190153400	Enhancers	NHDF-Ad	bronchial
8	chr2:190149400-190153600	Enhancers	NH-A	brain
9	chr2:190149400-190153600	Enhancers	NHLF	lung
10	chr2:190149600-190150600	Weak transcription	HMEC	breast
11	chr2:190149600-190151400	Flanking Active TSS	A549	lung
12	chr2:190149600-190153200	Enhancers	HSMM	muscle
13	chr2:190149600-190153400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:190149800-190150800	Weak transcription	HUVEC	blood vessel
15	chr2:190149800-190153200	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:190150000-190150800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:190150000-190152400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:190150000-190153000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:190150200-190150400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:190150200-190150600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:190150200-190150600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:190150200-190151000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:190150200-190151200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:190150200-190151400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:190150200-190153400	Enhancers	HSMMtube	muscle
26	chr2:190150400-190152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:190150600-190150800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:190150600-190151000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:190150600-190151000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:190150600-190152400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:190150600-190152400	Enhancers	HMEC	breast
32	chr2:190150800-190151000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:190150800-190151000	Flanking Active TSS	Osteobl	bone
34	chr2:190150800-190151200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:190150800-190151400	Enhancers	NHEK	skin
36	chr2:190150800-190151600	Enhancers	HUVEC	blood vessel
37	chr2:190150800-190158200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:190151000-190151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:190151000-190151200	Enhancers	Osteobl	bone
40	chr2:190151000-190152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:190151000-190152400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:190151000-190153200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:190151000-190153600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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