Variant report

Variant	esv3349525
Chromosome Location	chr2:10151955-10155509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10147491..10150465-chr2:10152525..10155691,3	MCF-7	breast:
2	chr2:10152022..10153719-chr2:10160507..10163452,2	MCF-7	breast:
3	chr2:10148714..10150676-chr2:10152229..10153770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260476	chromatin interactions

Extended variants
information (count: 280 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200549582	chr2:10151965-10151966	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113575607	chr2:10151967-10151968	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202073227	chr2:10151968-10151969	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113966564	chr2:10151974-10151975	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62127509	chr2:10151987-10151988	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566103756	chr2:10151995-10151996	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62127510	chr2:10151996-10151997	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371650180	chr2:10152006-10152007	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs76767049	chr2:10152016-10152017	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534983924	chr2:10152046-10152047	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554914283	chr2:10152050-10152051	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368999570	chr2:10152053-10152054	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113546756	chr2:10152061-10152062	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112114543	chr2:10152072-10152073	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147278568	chr2:10152075-10152076	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370872127	chr2:10152083-10152084	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536893851	chr2:10152102-10152103	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201522598	chr2:10152110-10152111	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139436235	chr2:10152161-10152162	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76677162	chr2:10152181-10152182	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372422369	chr2:10152194-10152195	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76797698	chr2:10152200-10152201	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576896162	chr2:10152220-10152221	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369756503	chr2:10152229-10152230	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545470905	chr2:10152237-10152238	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373758107	chr2:10152245-10152246	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149072615	chr2:10152252-10152253	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75297398	chr2:10152256-10152257	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75644513	chr2:10152258-10152259	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78125957	chr2:10152268-10152269	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558995974	chr2:10152278-10152279	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74736810	chr2:10152281-10152282	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572519478	chr2:10152282-10152283	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79469923	chr2:10152287-10152288	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77889904	chr2:10152296-10152297	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75795571	chr2:10152297-10152298	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541383785	chr2:10152302-10152303	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77741955	chr2:10152303-10152304	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370876877	chr2:10152310-10152311	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112990311	chr2:10152332-10152333	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79751780	chr2:10152336-10152337	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373622307	chr2:10152341-10152342	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377511193	chr2:10152355-10152356	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561474838	chr2:10152363-10152364	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530413231	chr2:10152370-10152371	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374337922	chr2:10152372-10152373	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543690178	chr2:10152404-10152405	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370361638	chr2:10152413-10152414	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563885685	chr2:10152422-10152423	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532572779	chr2:10152434-10152435	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10148800-10153000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:10149200-10152000	Enhancers	Gastric	stomach
4	chr2:10149600-10152400	Enhancers	Adipose Nuclei	Adipose
5	chr2:10150800-10153600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10151000-10153200	Weak transcription	Ovary	ovary
7	chr2:10151200-10152400	Active TSS	Liver	Liver
8	chr2:10151200-10152400	Weak transcription	Placenta	Placenta
9	chr2:10151200-10152600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:10151200-10154600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:10151200-10155000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:10151600-10152200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:10151600-10155200	ZNF genes & repeats	Esophagus	oesophagus
14	chr2:10151800-10152000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10151800-10152000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:10151800-10152000	Enhancers	Spleen	Spleen
17	chr2:10151800-10153000	Weak transcription	Lung	lung
18	chr2:10151800-10153000	Weak transcription	Right Ventricle	heart
19	chr2:10151800-10153400	Enhancers	Pancreas	Pancrea
20	chr2:10152000-10152200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10152000-10153000	Weak transcription	Spleen	Spleen
22	chr2:10152000-10154200	Weak transcription	Gastric	stomach
23	chr2:10152200-10152400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:10152200-10153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:10152200-10153200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:10152400-10153400	Enhancers	Placenta	Placenta
27	chr2:10152400-10156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:10152400-10156200	Weak transcription	Adipose Nuclei	Adipose
29	chr2:10152400-10156200	Weak transcription	Liver	Liver
30	chr2:10152600-10153000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:10153000-10153200	Enhancers	Right Ventricle	heart
32	chr2:10153000-10153400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:10153000-10153400	Enhancers	Lung	lung
34	chr2:10153000-10153600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10153000-10154800	ZNF genes & repeats	Spleen	Spleen
36	chr2:10153200-10153400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:10153200-10153400	Enhancers	Ovary	ovary
38	chr2:10153200-10153400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:10153200-10156200	Weak transcription	Right Ventricle	heart
40	chr2:10153400-10154000	Weak transcription	Pancreas	Pancrea
41	chr2:10153400-10154400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:10153400-10154600	Weak transcription	Placenta	Placenta
43	chr2:10153400-10156200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:10153600-10154600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:10153800-10155200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:10154000-10155200	Enhancers	Pancreas	Pancrea
47	chr2:10154200-10154800	Enhancers	Gastric	stomach
48	chr2:10154400-10154800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:10154600-10154800	Enhancers	Placenta	Placenta
50	chr2:10154600-10155000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links