Variant report

Variant	esv3509329
Chromosome Location	chr2:35581328-35616528
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	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
2	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
3	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
4	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
5	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
6	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
7	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
8	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
9	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
10	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
11	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:

No data

Extended variants
information (count: 102 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547468662	chr2:35581349-35581350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561361171	chr2:35581352-35581353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7560274	chr2:35581421-35581422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7599336	chr2:35581441-35581442	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113369477	chr2:35581465-35581466	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140569056	chr2:35581482-35581483	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs114657777	chr2:35581504-35581505	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74789260	chr2:35581505-35581506	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565872817	chr2:35581534-35581535	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs12988646	chr2:35581571-35581572	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12988647	chr2:35581573-35581574	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371587325	chr2:35581580-35581581	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12988676	chr2:35581617-35581618	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554349010	chr2:35581672-35581673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs574448455	chr2:35581677-35581678	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145703314	chr2:35581680-35581681	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs181285424	chr2:35581797-35581798	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545120904	chr2:35593606-35593607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188666295	chr2:35593609-35593610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192566790	chr2:35593628-35593629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567648668	chr2:35593631-35593632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7422355	chr2:35593659-35593660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184856029	chr2:35593676-35593677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529920967	chr2:35593698-35593699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529984705	chr2:35593713-35593714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17016519	chr2:35593750-35593751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188739189	chr2:35593775-35593776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538716486	chr2:35593776-35593777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191204547	chr2:35593781-35593782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537983631	chr2:35593792-35593793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4549067	chr2:35593804-35593805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534294767	chr2:35593811-35593812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554059480	chr2:35593817-35593818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73922233	chr2:35593858-35593859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542817273	chr2:35593904-35593905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4578835	chr2:35593916-35593917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368403348	chr2:35593937-35593938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576502920	chr2:35593944-35593945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370006486	chr2:35593947-35593948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377721906	chr2:35593953-35593954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545471307	chr2:35593967-35593968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114766505	chr2:35593996-35593997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572429577	chr2:35594032-35594033	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs140124406	chr2:35594039-35594040	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4281882	chr2:35594043-35594044	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561167018	chr2:35594081-35594082	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183743577	chr2:35594094-35594095	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550038965	chr2:35594096-35594097	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563456540	chr2:35594112-35594113	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532135377	chr2:35594115-35594116	Enhancers Active TSS	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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