Variant report

Variant	nsv963941
Chromosome Location	chr2:190238972-190244573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190238500..190240603-chr2:190242623..190245183,2	MCF-7	breast:
2	chr2:190238500..190240603-chr2:190242623..190245183,2	MCF-7	breast:
3	chr2:190235250..190237838-chr2:190239605..190241943,2	MCF-7	breast:

Extended variants
information (count: 194 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200147363	chr2:190239035-190239036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186675242	chr2:190239042-190239043	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193255339	chr2:190239134-190239135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536054568	chr2:190239136-190239137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183678831	chr2:190239145-190239146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116082044	chr2:190239178-190239179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141281472	chr2:190239203-190239204	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552365980	chr2:190239238-190239239	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114510394	chr2:190239256-190239257	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189021623	chr2:190239313-190239314	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192996142	chr2:190239326-190239327	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184270436	chr2:190239437-190239438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535103488	chr2:190239583-190239584	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs138370180	chr2:190239603-190239604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188690139	chr2:190239617-190239618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79938813	chr2:190239658-190239659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533913991	chr2:190239695-190239696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191547183	chr2:190239697-190239698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572906440	chr2:190239702-190239703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183702171	chr2:190239713-190239714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559587563	chr2:190239726-190239727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75306973	chr2:190239759-190239760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10201372	chr2:190239774-190239775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371525266	chr2:190239778-190239779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187981639	chr2:190239869-190239870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78699889	chr2:190239905-190239906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10166669	chr2:190239920-190239921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544840058	chr2:190239938-190239939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536151240	chr2:190239946-190239947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531128890	chr2:190239960-190239961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1851105	chr2:190239979-190239980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571032209	chr2:190239985-190239986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528667673	chr2:190239992-190239993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187397495	chr2:190239994-190239995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568044166	chr2:190240003-190240004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10177917	chr2:190240033-190240034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs36090224	chr2:190240038-190240039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557011915	chr2:190240064-190240065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568843444	chr2:190240119-190240120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539748388	chr2:190240145-190240146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557728065	chr2:190240222-190240223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79046698	chr2:190240288-190240289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10201984	chr2:190240338-190240339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12468002	chr2:190240405-190240406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs376826274	chr2:190240546-190240547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76501318	chr2:190240563-190240564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541889890	chr2:190240627-190240628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369864099	chr2:190240648-190240649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563342345	chr2:190240653-190240654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530770801	chr2:190240702-190240703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190233400-190241400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:190235000-190243800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:190235400-190243800	Weak transcription	Aorta	Aorta
4	chr2:190235800-190241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:190235800-190243600	Weak transcription	NHLF	lung
6	chr2:190236000-190241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:190236000-190243600	Weak transcription	NH-A	brain
8	chr2:190236000-190243800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:190236000-190243800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:190236400-190243600	Weak transcription	HSMM	muscle
11	chr2:190237200-190239000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:190237200-190240600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:190237600-190239400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:190237600-190240800	Enhancers	Osteobl	bone
15	chr2:190238000-190241800	Weak transcription	NHEK	skin
16	chr2:190238200-190239600	Enhancers	HUVEC	blood vessel
17	chr2:190238400-190239400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:190238600-190239600	Enhancers	Primary T cells from cord blood	blood
19	chr2:190238800-190239000	Active TSS	A549	lung
20	chr2:190238800-190240200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:190238800-190240200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:190238800-190241400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:190238800-190243600	Weak transcription	NHDF-Ad	bronchial
24	chr2:190238800-190243800	Weak transcription	HMEC	breast
25	chr2:190239000-190239200	Flanking Active TSS	A549	lung
26	chr2:190239000-190239400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:190239000-190239600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:190239200-190239400	Active TSS	A549	lung
29	chr2:190239400-190239600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:190239400-190239600	Flanking Active TSS	A549	lung
31	chr2:190239400-190243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:190239600-190240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:190239600-190242400	Enhancers	A549	lung
34	chr2:190240200-190241000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:190240200-190241400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:190240600-190240800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:190240600-190241000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:190240600-190241200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:190240600-190241600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:190240600-190241600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:190240600-190243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:190240800-190243600	Weak transcription	Osteobl	bone
43	chr2:190240800-190243800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:190241000-190242400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:190241000-190243600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:190241000-190243800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:190241200-190243600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:190241400-190242000	Enhancers	Fetal Intestine Large	intestine
49	chr2:190241400-190242200	Enhancers	Fetal Intestine Small	intestine
50	chr2:190241400-190243600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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