Variant report

Variant	esv1468618
Chromosome Location	chr2:10431505-10431643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10428846..10431890-chr2:10441149..10444501,5	MCF-7	breast:
2	chr2:10424582..10428007-chr2:10430284..10432501,3	K562	blood:
3	chr2:10425395..10428329-chr2:10430052..10432008,2	MCF-7	breast:
4	chr2:10428831..10432863-chr2:10436223..10438943,4	MCF-7	breast:
5	chr2:10428722..10433156-chr2:10441282..10444570,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206898	chromatin interactions
ENSG00000115756	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs70948880	chr2:10431505-10431506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs57881958	chr2:10431506-10431507	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542402940	chr2:10431508-10431509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561127295	chr2:10431509-10431510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200060191	chr2:10431514-10431515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375649767	chr2:10431519-10431520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs70948882	chr2:10431520-10431521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375570128	chr2:10431525-10431526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540486520	chr2:10431530-10431531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565193754	chr2:10431531-10431532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532482632	chr2:10431536-10431537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs59980234	chr2:10431542-10431543	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569202885	chr2:10431544-10431545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201644585	chr2:10431550-10431551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373127150	chr2:10431561-10431562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373351456	chr2:10431567-10431568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183344968	chr2:10431578-10431579	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12997570	chr2:10431579-10431580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs13021660	chr2:10431580-10431581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559932251	chr2:10431581-10431582	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528586057	chr2:10431582-10431583	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188459145	chr2:10431586-10431587	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373951752	chr2:10431597-10431598	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567010983	chr2:10431608-10431609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13020182	chr2:10431609-10431610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112375864	chr2:10431611-10431612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190132536	chr2:10431614-10431615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558789129	chr2:10431616-10431617	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570791111	chr2:10431617-10431618	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182369431	chr2:10431622-10431623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369101668	chr2:10431627-10431628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200501261	chr2:10431628-10431629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs61316440	chr2:10431629-10431630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201865737	chr2:10431630-10431631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111215153	chr2:10431631-10431632	Weak transcription	Chromatin interactive region	2 gene(s)	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
Breast cancer	22522925	CNVD
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10426200-10438000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10426800-10437600	Weak transcription	Spleen	Spleen
3	chr2:10429400-10431800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:10429600-10436800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:10430200-10435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10430800-10435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:10431000-10433800	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links