Variant report

Variant	esv15716
Chromosome Location	chr2:35580770-35616409
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	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
2	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
3	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
4	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
5	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
6	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
7	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
8	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
9	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
10	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
11	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:

No data

Extended variants
information (count: 136 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6747413	chr2:35580775-35580776	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6718748	chr2:35580778-35580779	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560818660	chr2:35580790-35580791	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs529641088	chr2:35580792-35580793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542945000	chr2:35580823-35580824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs70943103	chr2:35580853-35580854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs398104183	chr2:35580863-35580864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6543933	chr2:35580870-35580871	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6747529	chr2:35580879-35580880	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371275028	chr2:35580880-35580881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551531123	chr2:35580904-35580905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571424522	chr2:35580905-35580906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527740674	chr2:35580910-35580911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547391422	chr2:35580916-35580917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567541989	chr2:35580936-35580937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527584707	chr2:35580937-35580938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs536582136	chr2:35580993-35580994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186233591	chr2:35581027-35581028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569904835	chr2:35581088-35581089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538849841	chr2:35581089-35581090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111774723	chr2:35581090-35581091	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145605393	chr2:35581099-35581100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547270629	chr2:35581121-35581122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148911222	chr2:35581127-35581128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188545873	chr2:35581139-35581140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565372516	chr2:35581143-35581144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574338816	chr2:35581165-35581166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543336473	chr2:35581227-35581228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7560076	chr2:35581245-35581246	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576294537	chr2:35581246-35581247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545207652	chr2:35581279-35581280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143545270	chr2:35581291-35581292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs138074050	chr2:35581316-35581317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554242640	chr2:35581317-35581318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547468662	chr2:35581349-35581350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561361171	chr2:35581352-35581353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7560274	chr2:35581421-35581422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs7599336	chr2:35581441-35581442	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113369477	chr2:35581465-35581466	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140569056	chr2:35581482-35581483	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114657777	chr2:35581504-35581505	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs74789260	chr2:35581505-35581506	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565872817	chr2:35581534-35581535	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs12988646	chr2:35581571-35581572	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12988647	chr2:35581573-35581574	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs371587325	chr2:35581580-35581581	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12988676	chr2:35581617-35581618	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554349010	chr2:35581672-35581673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574448455	chr2:35581677-35581678	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145703314	chr2:35581680-35581681	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35580200-35581600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:35580400-35581400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:35580400-35581800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:35581400-35581800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:35581600-35581800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:35593600-35594800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:35594000-35594400	Active TSS	Brain Angular Gyrus	brain
8	chr2:35594200-35594400	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:35597600-35598000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:35597600-35598000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:35601400-35601800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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