Variant report

Variant	nsv519301
Chromosome Location	chr2:206425674-206445115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:206437172..206439610-chr2:206443059..206445348,2	K562	blood:
2	chr2:206437172..206439610-chr2:206443059..206445348,2	K562	blood:
3	chr2:206426191..206428311-chr2:206429496..206431133,2	MCF-7	breast:
4	chr2:206426191..206428311-chr2:206429496..206431133,2	MCF-7	breast:
5	chr2:206433786..206435982-chr2:206449745..206451830,2	MCF-7	breast:

Extended variants
information (count: 760 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3732092	chr2:206425674-206425675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534205320	chr2:206425702-206425703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372137552	chr2:206425731-206425732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558947886	chr2:206425734-206425735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186243132	chr2:206425747-206425748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542187819	chr2:206425761-206425762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538130991	chr2:206425770-206425771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556133690	chr2:206425771-206425772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191336649	chr2:206425811-206425812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541595519	chr2:206425898-206425899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181659322	chr2:206425901-206425902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546267944	chr2:206425931-206425932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571759972	chr2:206425947-206425948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148216135	chr2:206425967-206425968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563728241	chr2:206425968-206425969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564326680	chr2:206425971-206425972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531691193	chr2:206426022-206426023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3732091	chr2:206426055-206426056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550837257	chr2:206426099-206426100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562972611	chr2:206426121-206426122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6741018	chr2:206426130-206426131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548464370	chr2:206426132-206426133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185841017	chr2:206426158-206426159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140160567	chr2:206426241-206426242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150329595	chr2:206426242-206426243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570858947	chr2:206426249-206426250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538170377	chr2:206426267-206426268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564926865	chr2:206426283-206426284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556407144	chr2:206426285-206426286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138068666	chr2:206426291-206426292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557909285	chr2:206426308-206426309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527517464	chr2:206426353-206426354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553644413	chr2:206426369-206426370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571848824	chr2:206426377-206426378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529490258	chr2:206426379-206426380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143638422	chr2:206426410-206426411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112638979	chr2:206426419-206426420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115602749	chr2:206426466-206426467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575613502	chr2:206426469-206426470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147216219	chr2:206426544-206426545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191082429	chr2:206426548-206426549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530281226	chr2:206426608-206426609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138976223	chr2:206426632-206426633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149556080	chr2:206426669-206426670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577970389	chr2:206426699-206426700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376085412	chr2:206426727-206426728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565475611	chr2:206426745-206426746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527836553	chr2:206426782-206426783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114092640	chr2:206426824-206426825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539142008	chr2:206426845-206426846	Weak transcription Enhancers	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
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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206405000-206446600	Weak transcription	Ovary	ovary
2	chr2:206405200-206430600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:206405600-206435400	Weak transcription	Fetal Stomach	stomach
4	chr2:206405600-206445000	Weak transcription	HSMMtube	muscle
5	chr2:206409000-206431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:206410000-206427400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:206411000-206439000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:206418600-206426200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:206418600-206439000	Weak transcription	Pancreas	Pancrea
10	chr2:206421600-206431000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:206421800-206426400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:206422200-206430200	Weak transcription	Osteobl	bone
13	chr2:206422400-206464600	Weak transcription	Aorta	Aorta
14	chr2:206422600-206436000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:206423200-206431000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:206425600-206426400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:206425600-206426800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:206425800-206426800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:206426200-206426400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:206426400-206426600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:206426400-206427000	Enhancers	Fetal Lung	lung
22	chr2:206426600-206427000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:206427400-206430600	Enhancers	Colon Smooth Muscle	Colon
24	chr2:206428400-206429000	Enhancers	Fetal Brain Male	brain
25	chr2:206428800-206429000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:206428800-206431000	Enhancers	Fetal Heart	heart
27	chr2:206429400-206429600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:206429400-206429600	Enhancers	Placenta	Placenta
29	chr2:206429600-206431000	Weak transcription	Placenta	Placenta
30	chr2:206430200-206430400	Enhancers	Osteobl	bone
31	chr2:206430600-206434400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:206431000-206431600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:206431000-206431800	Enhancers	Placenta	Placenta
34	chr2:206431000-206441200	Weak transcription	Fetal Heart	heart
35	chr2:206431200-206431400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:206431200-206431600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:206431200-206431600	Enhancers	NHEK	skin
38	chr2:206431400-206431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:206431400-206431800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:206431400-206432600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:206431600-206431800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr2:206431600-206432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:206431600-206433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:206431600-206433000	Weak transcription	NHEK	skin
45	chr2:206431600-206434000	Weak transcription	Esophagus	oesophagus
46	chr2:206431800-206432200	Weak transcription	Placenta	Placenta
47	chr2:206431800-206432800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:206432200-206433400	Enhancers	Placenta	Placenta
49	chr2:206432600-206433600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:206432800-206433400	Enhancers	Placenta Amnion	Placenta Amnion

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