Variant report

Variant	nsv828365
Chromosome Location	chr2:10884546-10894105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10879563..10881416-chr2:10888633..10890262,2	K562	blood:
2	chr2:10891179..10894114-chr2:10896101..10897894,3	MCF-7	breast:
3	chr2:10891230..10893109-chr2:10895590..10897106,2	MCF-7	breast:
4	chr2:10887364..10890234-chr2:10894383..10895991,2	K562	blood:
5	chr2:10886654..10889049-chr2:10889498..10891329,2	MCF-7	breast:
6	chr2:10886654..10889049-chr2:10889498..10891329,2	MCF-7	breast:
7	chr2:10890359..10892375-chr2:10951367..10953017,2	MCF-7	breast:
8	chr2:10893979..10896685-chr2:10898509..10901197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143870	chromatin interactions

Extended variants
information (count: 380 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539412616	chr2:10884596-10884597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373704357	chr2:10884633-10884634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557902325	chr2:10884678-10884679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376067888	chr2:10884683-10884684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576166776	chr2:10884696-10884697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116014064	chr2:10884709-10884710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561728172	chr2:10884740-10884741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377469618	chr2:10884744-10884745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573917955	chr2:10884751-10884752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540952022	chr2:10884777-10884778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567315124	chr2:10884778-10884779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374745919	chr2:10884796-10884797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572978611	chr2:10884798-10884799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199670331	chr2:10884799-10884800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191325787	chr2:10884863-10884864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545015856	chr2:10884873-10884874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533190728	chr2:10884920-10884921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551325821	chr2:10884943-10884944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183578849	chr2:10884951-10884952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530865363	chr2:10884969-10884970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10929696	chr2:10884999-10885000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558842666	chr2:10885029-10885030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192369145	chr2:10885042-10885043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7583958	chr2:10885084-10885085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183283163	chr2:10885090-10885091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62128982	chr2:10885091-10885092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372487927	chr2:10885101-10885102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539451230	chr2:10885140-10885141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377008553	chr2:10885162-10885163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs5829274	chr2:10885167-10885168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200936186	chr2:10885168-10885169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200774222	chr2:10885170-10885171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200408802	chr2:10885171-10885172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13002626	chr2:10885206-10885207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13019998	chr2:10885207-10885208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13020006	chr2:10885216-10885217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13021533	chr2:10885237-10885238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539953384	chr2:10885241-10885242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12997462	chr2:10885245-10885246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544192333	chr2:10885272-10885273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557740536	chr2:10885303-10885304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2087461	chr2:10885305-10885306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537132557	chr2:10885310-10885311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555570772	chr2:10885365-10885366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573732360	chr2:10885377-10885378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149426514	chr2:10885444-10885445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559400857	chr2:10885483-10885484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201847116	chr2:10885484-10885485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577472017	chr2:10885486-10885487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199636597	chr2:10885496-10885497	Weak transcription Enhancers	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
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10881600-10885800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:10881600-10892400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:10882200-10895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:10883000-10899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10884200-10886800	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:10884400-10887600	Enhancers	Primary B cells from cord blood	blood
7	chr2:10885200-10886400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:10885400-10886200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:10885600-10886400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:10885800-10886000	Active TSS	GM12878-XiMat	blood
11	chr2:10885800-10886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:10886000-10886200	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:10886200-10887000	Enhancers	GM12878-XiMat	blood
14	chr2:10886400-10888200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:10887000-10887400	Weak transcription	GM12878-XiMat	blood
16	chr2:10887400-10887800	Enhancers	GM12878-XiMat	blood
17	chr2:10888200-10888600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:10889600-10894200	Weak transcription	Right Atrium	heart
19	chr2:10891000-10891200	Bivalent Enhancer	K562	blood
20	chr2:10891000-10891400	Enhancers	Hela-S3	cervix
21	chr2:10891400-10895600	Weak transcription	Hela-S3	cervix
22	chr2:10891600-10892000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:10891800-10892600	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:10891800-10896200	Enhancers	Placenta	Placenta
25	chr2:10892000-10892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:10892200-10892600	Enhancers	Fetal Intestine Small	intestine
27	chr2:10892200-10892600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:10892200-10894600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:10892400-10893000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:10892400-10893400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:10892600-10899000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:10892600-10899200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:10892600-10905400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:10893000-10897600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:10893200-10893800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:10893400-10893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:10893800-10894400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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