Variant report

Variant	esv3451292
Chromosome Location	chr2:190225623-190266276
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190238500..190240603-chr2:190242623..190245183,2	MCF-7	breast:
2	chr2:190235250..190237838-chr2:190239605..190241943,2	MCF-7	breast:
3	chr2:190238500..190240603-chr2:190242623..190245183,2	MCF-7	breast:
4	chr2:190235250..190237838-chr2:190239605..190241943,2	MCF-7	breast:
5	chr2:190227574..190230494-chr2:190230881..190233590,2	MCF-7	breast:
6	chr2:190229232..190231892-chr2:190234841..190236403,2	MCF-7	breast:
7	chr2:190229232..190231892-chr2:190234841..190236403,2	MCF-7	breast:
8	chr2:190227574..190230494-chr2:190230881..190233590,2	MCF-7	breast:

No data

Extended variants
information (count: 1316 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1316 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529576383	chr2:190225646-190225647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192814186	chr2:190225649-190225650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569436995	chr2:190225660-190225661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146519695	chr2:190225696-190225697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368813305	chr2:190225698-190225699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563922646	chr2:190225699-190225700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58001279	chr2:190225712-190225713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563578459	chr2:190225759-190225760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376895804	chr2:190225765-190225766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184243027	chr2:190225774-190225775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10172337	chr2:190225802-190225803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35931768	chr2:190225856-190225857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533797651	chr2:190225882-190225883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372621369	chr2:190225885-190225886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115287231	chr2:190225930-190225931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573519479	chr2:190225937-190225938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190780044	chr2:190225978-190225979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10185003	chr2:190226033-190226034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567633761	chr2:190226116-190226117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528634745	chr2:190226146-190226147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577779576	chr2:190226261-190226262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55635333	chr2:190226270-190226271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397752836	chr2:190226279-190226280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181829440	chr2:190226323-190226324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564289150	chr2:190226338-190226339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572981126	chr2:190226345-190226346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4580411	chr2:190226349-190226350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559575629	chr2:190226404-190226405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561763525	chr2:190226409-190226410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539199582	chr2:190226416-190226417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201543265	chr2:190226512-190226513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572096941	chr2:190226519-190226520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551266005	chr2:190226583-190226584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551356236	chr2:190226606-190226607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139772987	chr2:190226607-190226608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563030405	chr2:190226638-190226639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541240713	chr2:190226656-190226657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533619972	chr2:190226667-190226668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551980639	chr2:190226668-190226669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115548106	chr2:190226674-190226675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533886231	chr2:190226730-190226731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549068495	chr2:190226770-190226771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567260070	chr2:190226810-190226811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186097829	chr2:190226855-190226856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556464200	chr2:190226910-190226911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571450159	chr2:190226958-190226959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538475954	chr2:190226979-190226980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188901472	chr2:190226980-190226981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553536150	chr2:190226985-190226986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571875468	chr2:190227024-190227025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190215800-190228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:190222000-190227800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:190222800-190228200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:190225200-190226200	Enhancers	HSMM	muscle
5	chr2:190225400-190226000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:190225400-190228400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:190225400-190228800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:190225600-190226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:190225600-190227200	Weak transcription	HSMMtube	muscle
10	chr2:190226000-190227000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:190226000-190228400	Weak transcription	NHLF	lung
12	chr2:190226200-190227200	Weak transcription	HSMM	muscle
13	chr2:190227000-190227200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:190227000-190227200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:190227000-190227600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:190227000-190229200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:190227200-190227400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:190227200-190227400	Enhancers	HSMMtube	muscle
19	chr2:190227200-190228400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:190227200-190228800	Enhancers	HSMM	muscle
21	chr2:190227400-190228200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:190227400-190228200	Weak transcription	HSMMtube	muscle
23	chr2:190227400-190228400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:190227600-190234800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:190227800-190228400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:190227800-190228800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:190227800-190229000	Enhancers	HUVEC	blood vessel
28	chr2:190227800-190229000	Enhancers	Osteobl	bone
29	chr2:190228000-190229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:190228200-190228800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:190228200-190228800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:190228200-190228800	Enhancers	HSMMtube	muscle
33	chr2:190228200-190229000	Enhancers	HMEC	breast
34	chr2:190228200-190229000	Enhancers	NHEK	skin
35	chr2:190228400-190228600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:190228400-190228800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:190228400-190228800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:190228400-190228800	Enhancers	Aorta	Aorta
39	chr2:190228400-190228800	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:190228400-190228800	Enhancers	NH-A	brain
41	chr2:190228400-190228800	Enhancers	NHLF	lung
42	chr2:190228400-190229000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:190228400-190229000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:190228400-190229000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:190228400-190229000	Enhancers	A549	lung
46	chr2:190228400-190229000	Enhancers	NHDF-Ad	bronchial
47	chr2:190228400-190229200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:190228400-190229200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:190228600-190229000	Enhancers	Hela-S3	cervix
50	chr2:190228800-190231000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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