Variant report

Variant	nsv524988
Chromosome Location	chr2:30858736-30860007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:
2	chr2:30859134..30861368-chr2:30876511..30879135,2	K562	blood:
3	chr2:30858047..30861257-chr2:30883549..30886164,4	K562	blood:
4	chr2:30848701..30851520-chr2:30857233..30859467,2	K562	blood:
5	chr2:30858684..30861257-chr2:30883549..30886042,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12613783	chr2:30858736-30858737	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187675512	chr2:30858742-30858743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141802667	chr2:30858750-30858751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34035123	chr2:30858775-30858776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546957164	chr2:30858783-30858784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570155189	chr2:30858796-30858797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146276291	chr2:30858798-30858799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545570733	chr2:30858807-30858808	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192651395	chr2:30858863-30858864	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76826697	chr2:30858871-30858872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370246274	chr2:30858931-30858932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140005985	chr2:30859019-30859020	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185699321	chr2:30859027-30859028	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143612923	chr2:30859047-30859048	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557856662	chr2:30859063-30859064	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578072728	chr2:30859133-30859134	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540889883	chr2:30859156-30859157	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114524163	chr2:30859190-30859191	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190609950	chr2:30859213-30859214	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370670650	chr2:30859216-30859217	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564179325	chr2:30859227-30859228	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542834592	chr2:30859251-30859252	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563134809	chr2:30859329-30859330	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530514117	chr2:30859358-30859359	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550700463	chr2:30859368-30859369	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201951193	chr2:30859419-30859420	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77180994	chr2:30859425-30859426	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151255348	chr2:30859431-30859432	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546451739	chr2:30859441-30859442	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10469987	chr2:30859452-30859453	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs529214200	chr2:30859470-30859471	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139298515	chr2:30859488-30859489	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569072633	chr2:30859501-30859502	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77487480	chr2:30859506-30859507	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2609943	chr2:30859548-30859549	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374619953	chr2:30859562-30859563	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534207318	chr2:30859569-30859570	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554236330	chr2:30859586-30859587	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574374614	chr2:30859648-30859649	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150019591	chr2:30859660-30859661	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116128404	chr2:30859746-30859747	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145343436	chr2:30859770-30859771	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116364250	chr2:30859798-30859799	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536213057	chr2:30859804-30859805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540030480	chr2:30859859-30859860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71412840	chr2:30859895-30859896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113312981	chr2:30859896-30859897	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4952001	chr2:30859897-30859898	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534451004	chr2:30859956-30859957	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539819056	chr2:30859961-30859962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:30811600-30863000	Weak transcription	Ovary	ovary
3	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
5	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
6	chr2:30837600-30863000	Weak transcription	HepG2	liver
7	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
9	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
11	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
12	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
14	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:30845600-30863000	Weak transcription	A549	lung
18	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
21	chr2:30849000-30863800	Weak transcription	K562	blood
22	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:30850400-30869200	Weak transcription	Gastric	stomach
25	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:30851600-30863000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:30851800-30862800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:30851800-30863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:30852000-30859600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:30852400-30863000	Weak transcription	Esophagus	oesophagus
33	chr2:30853200-30861200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:30853200-30862800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:30853200-30863200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:30853200-30863400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:30853200-30863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
40	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:30854200-30863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
43	chr2:30854400-30861200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:30854400-30862600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:30854400-30862800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:30854400-30862800	Weak transcription	Thymus	Thymus
47	chr2:30854400-30863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:30854400-30863000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:30854400-30863000	Weak transcription	Fetal Thymus	thymus
50	chr2:30854400-30863200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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