Variant report

Variant	esv3460092
Chromosome Location	chr2:9923501-9927899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9924453..9926268-chr2:9927914..9930082,2	K562	blood:
2	chr2:9921109..9926354-chr2:9930407..9935197,5	K562	blood:
3	chr2:9694755..9696304-chr2:9923143..9926045,2	MCF-7	breast:
4	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
5	chr2:9925610..9927951-chr2:9929865..9931540,2	MCF-7	breast:
6	chr2:9920939..9923701-chr2:9941195..9943026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271855	chromatin interactions
ENSG00000151694	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs149327093	chr2:9923531-9923532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541235987	chr2:9923558-9923559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77358000	chr2:9923573-9923574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76825921	chr2:9923583-9923584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574857732	chr2:9923624-9923625	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543784555	chr2:9923625-9923626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187846524	chr2:9923631-9923632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543528268	chr2:9923691-9923692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552451413	chr2:9923707-9923708	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192326421	chr2:9923723-9923724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528259843	chr2:9923739-9923740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548424089	chr2:9923749-9923750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568123056	chr2:9923770-9923771	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184448239	chr2:9923773-9923774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368427000	chr2:9923782-9923783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563337806	chr2:9923789-9923790	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570401250	chr2:9923800-9923801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539424141	chr2:9923805-9923806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537347915	chr2:9923814-9923815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558787001	chr2:9923844-9923845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529020518	chr2:9923851-9923852	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572422550	chr2:9923886-9923887	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74477132	chr2:9923887-9923888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574866824	chr2:9923906-9923907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543598844	chr2:9923934-9923935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371013650	chr2:9923970-9923971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577121747	chr2:9923988-9923989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143631806	chr2:9924013-9924014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559656327	chr2:9924053-9924054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528421787	chr2:9924078-9924079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549554036	chr2:9924092-9924093	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs138266846	chr2:9924121-9924122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561777183	chr2:9924181-9924182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34444231	chr2:9924187-9924188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs397727493	chr2:9924188-9924189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34533032	chr2:9924223-9924224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188807927	chr2:9924248-9924249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552100807	chr2:9924303-9924304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2357266	chr2:9924387-9924388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
40	rs532734580	chr2:9924388-9924389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146102163	chr2:9924409-9924410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566010864	chr2:9924410-9924411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs535025910	chr2:9924484-9924485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138943783	chr2:9924524-9924525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113085289	chr2:9924525-9924526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192733998	chr2:9924532-9924533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372225241	chr2:9924546-9924547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557139254	chr2:9924558-9924559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577287039	chr2:9924568-9924569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546194700	chr2:9924569-9924570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
2	chr2:9917800-9923600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:9918200-9924000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:9918600-9923600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:9919400-9927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:9920200-9924000	Enhancers	Primary T cells from cord blood	blood
7	chr2:9920600-9924200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:9922000-9923600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:9922000-9923600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:9922200-9923600	Enhancers	Fetal Thymus	thymus
11	chr2:9922600-9927200	Weak transcription	GM12878-XiMat	blood
12	chr2:9923000-9923600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:9923000-9923600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:9923000-9924200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:9923000-9927000	Weak transcription	Fetal Kidney	kidney
16	chr2:9923200-9924000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:9923200-9927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:9923200-9927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:9923200-9927000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:9923400-9924400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:9923400-9924400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:9923400-9925600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:9923400-9926000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:9923400-9926200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:9923400-9926200	Weak transcription	Placenta	Placenta
26	chr2:9923600-9926800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:9923600-9927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:9923600-9927000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:9923600-9927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:9923600-9927200	Weak transcription	Fetal Thymus	thymus
31	chr2:9923600-9927400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:9924000-9924400	Weak transcription	Primary T cells from cord blood	blood
33	chr2:9924000-9926200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:9924200-9927000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:9924200-9927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:9924400-9924600	Enhancers	Primary T cells from cord blood	blood
37	chr2:9924400-9927000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:9924600-9927000	Weak transcription	Primary T cells from cord blood	blood
39	chr2:9924800-9925000	Enhancers	Left Ventricle	heart
40	chr2:9925000-9925200	Weak transcription	Left Ventricle	heart
41	chr2:9925400-9926800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:9925600-9926600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:9925600-9927600	Enhancers	Fetal Intestine Large	intestine
44	chr2:9926000-9926200	Bivalent Enhancer	HepG2	liver
45	chr2:9926000-9927000	Enhancers	Fetal Intestine Small	intestine
46	chr2:9926200-9926400	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:9926200-9927000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr2:9926200-9927000	Enhancers	Placenta	Placenta
49	chr2:9926800-9927000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:9926800-9927000	Enhancers	Monocytes-CD14+_RO01746	blood

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