Variant report

Variant	nsv525643
Chromosome Location	chr2:31695655-31708616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31694506..31697233-chr2:31697342..31700505,3	K562	blood:
2	chr2:31690065..31691732-chr2:31696133..31697901,2	MCF-7	breast:
3	chr2:31705373..31707230-chr2:31710852..31712449,2	MCF-7	breast:
4	chr2:31694509..31696895-chr2:31698481..31701465,2	K562	blood:
5	chr2:31694506..31697233-chr2:31697342..31700505,3	K562	blood:
6	chr2:31694509..31696895-chr2:31698481..31701465,2	K562	blood:

Extended variants
information (count: 516 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1033688	chr2:31695655-31695656	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371482391	chr2:31695687-31695688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559572563	chr2:31695696-31695697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs1033689	chr2:31695729-31695730	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200842208	chr2:31695779-31695780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs1033690	chr2:31695806-31695807	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562354481	chr2:31695925-31695926	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556966584	chr2:31695943-31695944	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs530599714	chr2:31695948-31695949	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544328396	chr2:31695989-31695990	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184660477	chr2:31695995-31695996	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533441679	chr2:31696069-31696070	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533540850	chr2:31696079-31696080	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545216848	chr2:31696087-31696088	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560224952	chr2:31696151-31696152	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188629816	chr2:31696241-31696242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566780649	chr2:31696315-31696316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527634531	chr2:31696316-31696317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529581628	chr2:31696323-31696324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548991073	chr2:31696385-31696386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548960564	chr2:31696386-31696387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529456525	chr2:31696456-31696457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537939050	chr2:31696469-31696470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181298240	chr2:31696501-31696502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571674514	chr2:31696515-31696516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148732991	chr2:31696584-31696585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185908422	chr2:31696605-31696606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369597220	chr2:31696610-31696611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189154703	chr2:31696622-31696623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573167127	chr2:31696655-31696656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567588387	chr2:31696661-31696662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181817265	chr2:31696670-31696671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555385813	chr2:31696679-31696680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371694660	chr2:31696706-31696707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142350765	chr2:31696707-31696708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551639095	chr2:31696713-31696714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187126820	chr2:31696806-31696807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543886754	chr2:31696809-31696810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551091438	chr2:31696863-31696864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531947236	chr2:31696921-31696922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564160930	chr2:31696924-31696925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115048438	chr2:31696963-31696964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540808816	chr2:31696971-31696972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151293282	chr2:31697018-31697019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529519282	chr2:31697019-31697020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75829727	chr2:31697048-31697049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569226489	chr2:31697056-31697057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531705664	chr2:31697113-31697114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541265947	chr2:31697153-31697154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113415024	chr2:31697163-31697164	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31694600-31696200	ZNF genes & repeats	Fetal Intestine Small	intestine
2	chr2:31695600-31695800	ZNF genes & repeats	Fetal Intestine Large	intestine
3	chr2:31695800-31701000	Enhancers	Fetal Intestine Large	intestine
4	chr2:31696200-31696400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:31696400-31700800	Enhancers	Fetal Intestine Small	intestine
6	chr2:31697000-31698600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:31697200-31697600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:31697400-31698000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:31697400-31699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:31697600-31698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:31697600-31700400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:31697800-31700800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:31697800-31701400	Enhancers	NHDF-Ad	bronchial
14	chr2:31698000-31698400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:31698000-31699000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:31698000-31699400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:31698000-31699600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:31698200-31700200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:31698200-31701000	Enhancers	NHLF	lung
20	chr2:31698400-31699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:31698400-31700400	Enhancers	Osteobl	bone
22	chr2:31698400-31700600	Enhancers	HSMM	muscle
23	chr2:31698600-31699000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:31698600-31699000	Enhancers	HSMMtube	muscle
25	chr2:31698800-31699400	Enhancers	HMEC	breast
26	chr2:31698800-31700000	Enhancers	NHEK	skin
27	chr2:31699000-31699200	Weak transcription	HSMMtube	muscle
28	chr2:31699000-31699800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:31699000-31699800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:31699000-31701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:31699200-31699600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:31699200-31699600	Enhancers	HSMMtube	muscle
33	chr2:31699400-31699600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:31699400-31699600	Enhancers	Small Intestine	intestine
35	chr2:31699400-31700200	Enhancers	Aorta	Aorta
36	chr2:31699400-31701000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:31699600-31700400	Weak transcription	HSMMtube	muscle
38	chr2:31699600-31703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:31699800-31700800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:31700400-31700600	Enhancers	HSMMtube	muscle
41	chr2:31700800-31702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:31700800-31707600	Weak transcription	Fetal Intestine Small	intestine
43	chr2:31701000-31712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:31701400-31702400	Weak transcription	NHDF-Ad	bronchial
45	chr2:31701400-31706800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:31702400-31703600	Enhancers	NHDF-Ad	bronchial
47	chr2:31702600-31704000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:31703600-31705800	Weak transcription	NHDF-Ad	bronchial
49	chr2:31705200-31712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:31705800-31706200	Enhancers	NHDF-Ad	bronchial

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