Variant report

Variant	esv3436032
Chromosome Location	chr2:10694046-10694557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
2	chr2:10692099..10694408-chr2:10696409..10700147,3	MCF-7	breast:
3	chr2:10692833..10694594-chr2:10798213..10800858,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549692312	chr2:10694049-10694050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569992675	chr2:10694050-10694051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185733106	chr2:10694121-10694122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190116054	chr2:10694130-10694131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371614965	chr2:10694139-10694140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182664476	chr2:10694141-10694142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117395976	chr2:10694142-10694143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369934660	chr2:10694157-10694158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553060007	chr2:10694163-10694164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111277572	chr2:10694173-10694174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113222746	chr2:10694183-10694184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112114564	chr2:10694192-10694193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113258145	chr2:10694206-10694207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77226738	chr2:10694233-10694234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111582856	chr2:10694239-10694240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3929613	chr2:10694242-10694243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545483374	chr2:10694272-10694273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3929614	chr2:10694273-10694274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3929615	chr2:10694283-10694284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74222339	chr2:10694289-10694290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74171488	chr2:10694292-10694293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543373145	chr2:10694302-10694303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113355425	chr2:10694325-10694326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13002441	chr2:10694333-10694334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77484263	chr2:10694339-10694340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71439017	chr2:10694341-10694342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75861115	chr2:10694342-10694343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561536118	chr2:10694347-10694348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548303400	chr2:10694349-10694350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74192653	chr2:10694350-10694351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528910424	chr2:10694352-10694353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13002628	chr2:10694375-10694376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35976345	chr2:10694383-10694384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3916710	chr2:10694389-10694390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3929616	chr2:10694392-10694393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76876692	chr2:10694393-10694394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532930583	chr2:10694397-10694398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138276483	chr2:10694400-10694401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201416357	chr2:10694425-10694426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551446122	chr2:10694430-10694431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78511957	chr2:10694442-10694443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78414375	chr2:10694443-10694444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372410246	chr2:10694450-10694451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73182421	chr2:10694475-10694476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569783018	chr2:10694481-10694482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34049253	chr2:10694489-10694490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536823862	chr2:10694490-10694491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71325731	chr2:10694492-10694493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80130157	chr2:10694493-10694494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567183351	chr2:10694506-10694507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10689200-10710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:10689800-10701800	Weak transcription	Pancreas	Pancrea
4	chr2:10690800-10698800	Weak transcription	Fetal Brain Female	brain
5	chr2:10691200-10695200	Weak transcription	Left Ventricle	heart
6	chr2:10691200-10695200	Weak transcription	HUVEC	blood vessel
7	chr2:10691200-10695600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:10691200-10701400	Weak transcription	Right Atrium	heart
9	chr2:10691800-10700800	Weak transcription	Spleen	Spleen
10	chr2:10692200-10709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:10692600-10695200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:10692600-10695200	Weak transcription	Lung	lung
13	chr2:10692600-10705400	Weak transcription	Fetal Thymus	thymus
14	chr2:10692800-10695200	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:10693000-10708800	Weak transcription	NHEK	skin
16	chr2:10693200-10700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:10693200-10700200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:10693400-10695200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:10694000-10694200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:10694200-10700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10694200-10710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links