Variant report

Variant	esv3429635
Chromosome Location	chr2:10430701-10432874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10424582..10428007-chr2:10430284..10432501,3	K562	blood:
2	chr2:10428722..10433156-chr2:10441282..10444570,6	MCF-7	breast:
3	chr2:10428846..10431890-chr2:10441149..10444501,5	MCF-7	breast:
4	chr2:10432073..10436168-chr2:10439823..10445220,6	K562	blood:
5	chr2:10417609..10422533-chr2:10427569..10430886,4	K562	blood:
6	chr2:10428831..10432863-chr2:10436223..10438943,4	MCF-7	breast:
7	chr2:10425395..10428329-chr2:10430052..10432008,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115756	chromatin interactions
ENSG00000206898	chromatin interactions
ENSG00000264030	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs13422172	chr2:10430716-10430717	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573462837	chr2:10430725-10430726	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs71437701	chr2:10430769-10430770	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182478204	chr2:10430784-10430785	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577231551	chr2:10430792-10430793	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34514681	chr2:10430793-10430794	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs13422289	chr2:10430853-10430854	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530582051	chr2:10430869-10430870	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs549143626	chr2:10430871-10430872	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs535214605	chr2:10430872-10430873	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113864570	chr2:10430876-10430877	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs528382287	chr2:10430881-10430882	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546954594	chr2:10430940-10430941	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571627229	chr2:10430945-10430946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs77705923	chr2:10430957-10430958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373469652	chr2:10430991-10430992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7590528	chr2:10431062-10431063	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs55890118	chr2:10431071-10431072	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555166940	chr2:10431120-10431121	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541275901	chr2:10431138-10431139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375082692	chr2:10431165-10431166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77431143	chr2:10431166-10431167	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187058950	chr2:10431197-10431198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368735021	chr2:10431243-10431244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547406191	chr2:10431289-10431290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372663022	chr2:10431336-10431337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201758796	chr2:10431381-10431382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531541507	chr2:10431395-10431396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148851362	chr2:10431424-10431425	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192031934	chr2:10431439-10431440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200060029	chr2:10431457-10431458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577955657	chr2:10431460-10431461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs28581338	chr2:10431464-10431465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201089244	chr2:10431465-10431466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs58339148	chr2:10431466-10431467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28500658	chr2:10431470-10431471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs28369092	chr2:10431476-10431477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28449652	chr2:10431478-10431479	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544618405	chr2:10431486-10431487	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199623802	chr2:10431489-10431490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563168096	chr2:10431501-10431502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577426533	chr2:10431504-10431505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs70948880	chr2:10431505-10431506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs57881958	chr2:10431506-10431507	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542402940	chr2:10431508-10431509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561127295	chr2:10431509-10431510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200060191	chr2:10431514-10431515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375649767	chr2:10431519-10431520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs70948882	chr2:10431520-10431521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375570128	chr2:10431525-10431526	Weak transcription	Chromatin interactive region	2 gene(s)	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
Breast cancer	22522925	CNVD
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:21 , 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	chr2:10428800-10430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10428800-10431000	Enhancers	HMEC	breast
5	chr2:10428800-10431000	Enhancers	Osteobl	bone
6	chr2:10429200-10431000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:10429200-10431000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:10429200-10431000	Enhancers	HSMM	muscle
9	chr2:10429400-10430800	Enhancers	Hela-S3	cervix
10	chr2:10429400-10431800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:10429600-10436800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:10429800-10430800	Enhancers	A549	lung
13	chr2:10430000-10430800	Enhancers	HUVEC	blood vessel
14	chr2:10430000-10431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10430000-10431000	Enhancers	NHDF-Ad	bronchial
16	chr2:10430200-10431000	Enhancers	NHEK	skin
17	chr2:10430200-10435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10430400-10431000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:10430800-10435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:10431000-10433800	Weak transcription	HMEC	breast
21	chr2:10432000-10432800	Weak transcription	Primary B cells from cord blood	blood

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