Variant report

Variant	nsv526719
Chromosome Location	chr12:44298417-44315762
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	chr12:44311824..44313734-chr12:44316196..44317780,2	MCF-7	breast:
2	chr12:44311484..44313107-chr12:44314992..44317607,2	K562	blood:
3	chr12:44308839..44309349-chr12:44331764..44332482,2	MCF-7	breast:
4	chr12:44310016..44313786-chr12:44314229..44318943,4	K562	blood:
5	chr12:44311484..44313107-chr12:44314992..44317607,2	K562	blood:
6	chr12:44310016..44313786-chr12:44314229..44318943,4	K562	blood:
7	chr12:44291890..44294959-chr12:44297148..44301402,3	MCF-7	breast:
8	chr12:44158810..44161321-chr12:44313514..44316274,2	K562	blood:

No data

Extended variants
information (count: 718 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4488262	chr12:44298417-44298418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541493798	chr12:44298451-44298452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367933151	chr12:44298454-44298455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367959709	chr12:44298463-44298464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563078880	chr12:44298491-44298492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4609659	chr12:44298550-44298551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548284410	chr12:44298576-44298577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566482918	chr12:44298593-44298594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186713500	chr12:44298600-44298601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374243195	chr12:44298673-44298674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551930065	chr12:44298736-44298737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143210255	chr12:44298745-44298746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12579894	chr12:44298747-44298748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555991540	chr12:44298754-44298755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543204056	chr12:44298772-44298773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372849558	chr12:44298806-44298807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55669442	chr12:44298807-44298808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553916772	chr12:44298817-44298818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4768534	chr12:44298821-44298822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540713532	chr12:44298830-44298831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191599520	chr12:44298835-44298836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200062240	chr12:44298836-44298837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77348136	chr12:44298841-44298842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182775917	chr12:44298847-44298848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186681536	chr12:44298877-44298878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563144211	chr12:44298878-44298879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189571998	chr12:44298908-44298909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4768535	chr12:44298917-44298918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560737143	chr12:44298941-44298942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11327213	chr12:44298947-44298948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4768536	chr12:44298961-44298962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377300948	chr12:44298962-44298963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552211173	chr12:44298993-44298994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10785462	chr12:44299067-44299068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10785463	chr12:44299093-44299094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183365267	chr12:44299097-44299098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116930265	chr12:44299125-44299126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529852721	chr12:44299137-44299138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535718494	chr12:44299142-44299143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114139362	chr12:44299147-44299148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565827089	chr12:44299151-44299152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534036401	chr12:44299222-44299223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187875708	chr12:44299247-44299248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149087436	chr12:44299248-44299249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544648985	chr12:44299253-44299254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145908615	chr12:44299268-44299269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112678541	chr12:44299288-44299289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5019975	chr12:44299370-44299371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4537822	chr12:44299389-44299390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560531847	chr12:44299402-44299403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44293800-44300800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:44297200-44298800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44298800-44307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44306800-44307000	Enhancers	NHDF-Ad	bronchial
5	chr12:44307000-44315600	Weak transcription	NHDF-Ad	bronchial
6	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44307800-44308400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44307800-44308600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:44307800-44308800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:44308000-44308600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:44308000-44308800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:44308000-44308800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:44308000-44308800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:44308200-44308600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:44308200-44308600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:44308200-44309800	Enhancers	Left Ventricle	heart
17	chr12:44308400-44318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:44308600-44314800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:44308800-44309400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:44309400-44311800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:44309800-44311000	Weak transcription	Left Ventricle	heart
22	chr12:44311000-44311400	Enhancers	Left Ventricle	heart
23	chr12:44311200-44312800	Enhancers	Fetal Heart	heart
24	chr12:44311200-44313000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:44311400-44324600	Weak transcription	Left Ventricle	heart
26	chr12:44311800-44312000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr12:44312000-44312400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:44312400-44312600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr12:44312600-44315200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:44312800-44314400	Weak transcription	Fetal Heart	heart
31	chr12:44314400-44314800	Enhancers	Fetal Heart	heart
32	chr12:44314600-44314800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:44314800-44317000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:44314800-44317000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:44314800-44317200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:44315000-44315400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:44315200-44315400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr12:44315200-44324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:44315400-44315800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:44315400-44316200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:44315400-44316800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:44315400-44316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:44315600-44316000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:44315600-44316000	Enhancers	NHLF	lung
45	chr12:44315600-44316400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:44315600-44316600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:44315600-44316600	Enhancers	NHDF-Ad	bronchial
48	chr12:44315600-44317000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links