Variant report

Variant	nsv527179
Chromosome Location	chr2:11204654-11208294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11207479..11209731-chr2:11210577..11212814,2	K562	blood:
2	chr2:11158514..11161172-chr2:11207047..11208600,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16857117	chr2:11205421-11205422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554993928	chr2:11205430-11205431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73917718	chr2:11205443-11205444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146996791	chr2:11205469-11205470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559018027	chr2:11205519-11205520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577319850	chr2:11205521-11205522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138108482	chr2:11205524-11205525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73917719	chr2:11205580-11205581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530687191	chr2:11205657-11205658	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371232236	chr2:11205664-11205665	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549237571	chr2:11205689-11205690	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568861503	chr2:11205695-11205696	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143767656	chr2:11205727-11205728	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528286193	chr2:11205728-11205729	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147213728	chr2:11205737-11205738	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74485305	chr2:11205756-11205757	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571730708	chr2:11205865-11205866	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181630010	chr2:11205872-11205873	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539152171	chr2:11205976-11205977	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537905149	chr2:11205980-11205981	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149340662	chr2:11205987-11205988	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144736510	chr2:11206129-11206130	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186256278	chr2:11206338-11206339	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10185403	chr2:11206343-11206344	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148521789	chr2:11206356-11206357	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373544847	chr2:11206358-11206359	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558733988	chr2:11206395-11206396	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200482696	chr2:11206402-11206403	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs577283154	chr2:11206405-11206406	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs544724798	chr2:11206428-11206429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs16857119	chr2:11206467-11206468	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575161048	chr2:11206515-11206516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs115869249	chr2:11206579-11206580	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs561190652	chr2:11206615-11206616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77181335	chr2:11206642-11206643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540396166	chr2:11206644-11206645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75451990	chr2:11206684-11206685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532377342	chr2:11206731-11206732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191028954	chr2:11206748-11206749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146135221	chr2:11206756-11206757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183508050	chr2:11206760-11206761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548292637	chr2:11206768-11206769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567110752	chr2:11206773-11206774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201156994	chr2:11206793-11206794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534196873	chr2:11206794-11206795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577091073	chr2:11206826-11206827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2357891	chr2:11206858-11206859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570689266	chr2:11206870-11206871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538082635	chr2:11206917-11206918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143924776	chr2:11206942-11206943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11205400-11205800	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr2:11205600-11205800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr2:11205600-11206000	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr2:11205600-11206400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:11205600-11206400	Enhancers	Fetal Lung	lung
6	chr2:11205600-11206600	Enhancers	Colonic Mucosa	Colon
7	chr2:11205600-11206600	Enhancers	Fetal Intestine Small	intestine
8	chr2:11205600-11206600	Enhancers	Fetal Stomach	stomach
9	chr2:11205600-11206600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:11205800-11206000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:11205800-11206000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr2:11205800-11206600	Enhancers	Pancreas	Pancrea
13	chr2:11205800-11206800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:11206000-11206200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:11206000-11206600	Enhancers	Fetal Intestine Large	intestine
16	chr2:11206200-11206400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:11206200-11206600	Bivalent Enhancer	NHLF	lung
18	chr2:11206400-11206600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:11206400-11206600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr2:11206400-11213400	Weak transcription	Fetal Lung	lung
21	chr2:11206600-11212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:11207800-11208000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr2:11207800-11214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links