Variant report

Variant	esv3346542
Chromosome Location	chr2:10656801-10660299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
2	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
3	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
4	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
5	chr2:10586849..10588529-chr2:10658757..10660570,2	K562	blood:
6	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115758	chromatin interactions
ENSG00000206633	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13031931	chr2:10656819-10656820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376775320	chr2:10656820-10656821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534365693	chr2:10656834-10656835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558898900	chr2:10656839-10656840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577436063	chr2:10656840-10656841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34806627	chr2:10656858-10656859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544604951	chr2:10656920-10656921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556979055	chr2:10656947-10656948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575351067	chr2:10656973-10656974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56057521	chr2:10656985-10656986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183975825	chr2:10657018-10657019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13013488	chr2:10657025-10657026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189658528	chr2:10657044-10657045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564961314	chr2:10657045-10657046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542887756	chr2:10657106-10657107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571474774	chr2:10657117-10657118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550503688	chr2:10657118-10657119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568909282	chr2:10657123-10657124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530801791	chr2:10657164-10657165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180887856	chr2:10657166-10657167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574699942	chr2:10657213-10657214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144735070	chr2:10657215-10657216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184292738	chr2:10657255-10657256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566920607	chr2:10657274-10657275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559877386	chr2:10657284-10657285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190465082	chr2:10657310-10657311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559083966	chr2:10657327-10657328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75640505	chr2:10657347-10657348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373123139	chr2:10657366-10657367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556942728	chr2:10657388-10657389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373482645	chr2:10657437-10657438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150731525	chr2:10657463-10657464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575213269	chr2:10657519-10657520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542604135	chr2:10657525-10657526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554626749	chr2:10657532-10657533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551647470	chr2:10657576-10657577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137978322	chr2:10657582-10657583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571317162	chr2:10657603-10657604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539989862	chr2:10657618-10657619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565082487	chr2:10657633-10657634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149473572	chr2:10657671-10657672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544006638	chr2:10657689-10657690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562405092	chr2:10657713-10657714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555328682	chr2:10657721-10657722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529956011	chr2:10657723-10657724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376099597	chr2:10657779-10657780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548148472	chr2:10657851-10657852	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566777623	chr2:10657853-10657854	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527767554	chr2:10657896-10657897	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552428960	chr2:10657901-10657902	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10645600-10658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10657200-10658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10657600-10658000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:10657800-10658200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10657800-10658200	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:10657800-10658200	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr2:10658000-10658600	ZNF genes & repeats	Spleen	Spleen
8	chr2:10658200-10658400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:10658200-10658600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:10658200-10658600	Active TSS	Fetal Kidney	kidney
11	chr2:10658200-10658600	Enhancers	Pancreas	Pancrea
12	chr2:10658200-10658800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:10658200-10658800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr2:10658200-10658800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:10658200-10658800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10658400-10658600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10658400-10658800	Enhancers	Gastric	stomach
18	chr2:10658400-10659200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:10658600-10658800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:10658600-10662400	Weak transcription	Spleen	Spleen
21	chr2:10658600-10662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10658800-10660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10658800-10661200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10658800-10661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:10659200-10659600	Enhancers	Fetal Muscle Leg	muscle
26	chr2:10659600-10661400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:10660200-10663200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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