Variant report

Variant	esv1806915
Chromosome Location	chr2:56607397-56633217
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	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:
2	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:

Extended variants
information (count: 511 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115379129	chr2:56607465-56607466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72803079	chr2:56607499-56607500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536102005	chr2:56607525-56607526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79706416	chr2:56607552-56607553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77943484	chr2:56607556-56607557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139524246	chr2:56607557-56607558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553678228	chr2:56607584-56607585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187208321	chr2:56607592-56607593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550509549	chr2:56607620-56607621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375033622	chr2:56607634-56607635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11896908	chr2:56607670-56607671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192080553	chr2:56607680-56607681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575410809	chr2:56607693-56607694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76657497	chr2:56607696-56607697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543935912	chr2:56607703-56607704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557420830	chr2:56607705-56607706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577264483	chr2:56607732-56607733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149570361	chr2:56607760-56607761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199877999	chr2:56607764-56607765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201358979	chr2:56607768-56607769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76584582	chr2:56607772-56607773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566321574	chr2:56607784-56607785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573868493	chr2:56607804-56607805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185449727	chr2:56607816-56607817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190324789	chr2:56607817-56607818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13427152	chr2:56607821-56607822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17268820	chr2:56607843-56607844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs575293151	chr2:56607892-56607893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147139257	chr2:56607918-56607919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372056871	chr2:56607977-56607978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193282088	chr2:56607993-56607994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184164808	chr2:56608001-56608002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566828498	chr2:56608019-56608020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535797975	chr2:56608022-56608023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188365402	chr2:56608047-56608048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148701431	chr2:56608104-56608105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72803080	chr2:56608117-56608118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557878031	chr2:56608147-56608148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72803081	chr2:56608152-56608153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181080733	chr2:56608153-56608154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185729737	chr2:56608210-56608211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573899676	chr2:56608214-56608215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142211461	chr2:56608258-56608259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13416667	chr2:56608267-56608268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576156736	chr2:56608310-56608311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113133041	chr2:56608332-56608333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151202777	chr2:56608361-56608362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188824555	chr2:56608365-56608366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547195345	chr2:56608366-56608367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139185969	chr2:56608393-56608394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56576000-56613200	Weak transcription	Left Ventricle	heart
2	chr2:56599600-56610400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:56604600-56608000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:56604600-56608000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:56604600-56608800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:56604800-56608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:56604800-56608000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:56606400-56610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:56606600-56607800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:56606600-56607800	Weak transcription	HMEC	breast
11	chr2:56606600-56608200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:56606600-56611200	Weak transcription	HSMM	muscle
13	chr2:56608000-56608200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:56608000-56608200	Enhancers	HMEC	breast
15	chr2:56608000-56608400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:56608000-56608400	Enhancers	Adipose Nuclei	Adipose
17	chr2:56608000-56608600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56608000-56608800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:56608200-56608600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:56608400-56611400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:56608400-56612200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:56608600-56611200	Enhancers	Fetal Intestine Small	intestine
23	chr2:56608800-56611200	Enhancers	Fetal Intestine Large	intestine
24	chr2:56609200-56610400	Enhancers	Liver	Liver
25	chr2:56609400-56610600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:56610000-56610800	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:56610400-56611200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:56610600-56611600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:56610600-56612600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:56610800-56611600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:56610800-56614000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:56611000-56611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:56611200-56611600	Weak transcription	Fetal Intestine Small	intestine
34	chr2:56611200-56614000	Weak transcription	Fetal Intestine Large	intestine
35	chr2:56611200-56614200	Strong transcription	HSMM	muscle
36	chr2:56611400-56611800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:56611400-56612200	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr2:56611600-56611800	Enhancers	Fetal Intestine Small	intestine
39	chr2:56611800-56614000	Weak transcription	Fetal Intestine Small	intestine
40	chr2:56612200-56617200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:56614000-56614600	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:56614000-56614600	Enhancers	Fetal Intestine Large	intestine
43	chr2:56614000-56615200	Enhancers	Fetal Intestine Small	intestine
44	chr2:56614200-56614600	ZNF genes & repeats	HSMM	muscle
45	chr2:56617000-56619200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:56617600-56618200	Enhancers	HUVEC	blood vessel

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