Variant report

Variant	nsv899107
Chromosome Location	chr12:57293436-57321212
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57287877..57290636-chr12:57297614..57299721,2	MCF-7	breast:
2	chr12:57319841..57322040-chr12:57335776..57337907,3	MCF-7	breast:
3	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:
4	chr12:57302260..57303849-chr12:57325166..57326787,2	MCF-7	breast:
5	chr12:57319668..57321739-chr12:57328699..57331375,2	MCF-7	breast:
6	chr12:57287853..57289367-chr12:57293884..57295708,2	K562	blood:
7	chr12:57315576..57318465-chr12:57319444..57323573,6	MCF-7	breast:
8	chr12:57296707..57298337-chr12:57317278..57320273,2	MCF-7	breast:
9	chr12:57155856..57157540-chr12:57319760..57321568,2	MCF-7	breast:
10	chr12:57316244..57318021-chr12:57321769..57323601,2	K562	blood:
11	chr12:57290248..57293772-chr12:57294284..57296377,4	K562	blood:
12	chr12:57117768..57120708-chr12:57319808..57322121,2	MCF-7	breast:
13	chr12:57232523..57234649-chr12:57320169..57322431,2	MCF-7	breast:
14	chr12:57315576..57318465-chr12:57319444..57323573,6	MCF-7	breast:
15	chr12:57315724..57318021-chr12:57321769..57324066,3	K562	blood:
16	chr12:57320297..57321910-chr12:57382955..57384633,2	MCF-7	breast:
17	chr12:57290248..57293772-chr12:57294284..57296377,4	K562	blood:
18	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:
19	chr12:57318495..57320635-chr12:57323936..57326743,2	K562	blood:
20	chr12:57296707..57298337-chr12:57317278..57320273,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO1A-2	chr12:57296984-57297177	ucscGeneNc_uc001sqq_1

No data

Variant related genes	Relation type
ENSG00000196531	chromatin interactions
ENSG00000025423	chromatin interactions

Extended variants
information (count: 700 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1846400	chr12:57293436-57293437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs112559792	chr12:57293448-57293449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537102855	chr12:57293466-57293467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34043117	chr12:57293497-57293498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558481362	chr12:57293583-57293584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140462109	chr12:57293615-57293616	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540946696	chr12:57293679-57293680	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372782054	chr12:57293706-57293707	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572138674	chr12:57293717-57293718	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12426808	chr12:57293744-57293745	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561292344	chr12:57293747-57293748	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367557319	chr12:57293751-57293752	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190004242	chr12:57293768-57293769	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143106794	chr12:57293773-57293774	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547654756	chr12:57293782-57293783	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556297772	chr12:57293792-57293793	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192026843	chr12:57293793-57293794	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374169380	chr12:57293831-57293832	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548144929	chr12:57293865-57293866	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200837941	chr12:57293872-57293873	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144208387	chr12:57293907-57293908	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73328665	chr12:57293940-57293941	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184413349	chr12:57293948-57293949	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569592647	chr12:57294033-57294034	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12422981	chr12:57294066-57294067	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs199541513	chr12:57294072-57294073	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12426816	chr12:57294074-57294075	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540886272	chr12:57294079-57294080	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140456325	chr12:57294097-57294098	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534491991	chr12:57294159-57294160	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552887969	chr12:57294217-57294218	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574397672	chr12:57294228-57294229	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571065466	chr12:57294266-57294267	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554683772	chr12:57294284-57294285	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576359447	chr12:57294322-57294323	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543582267	chr12:57294349-57294350	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189195809	chr12:57294392-57294393	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532794848	chr12:57294408-57294409	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374680486	chr12:57294415-57294416	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181906199	chr12:57294433-57294434	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559938679	chr12:57294434-57294435	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111783939	chr12:57294500-57294501	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74093932	chr12:57294509-57294510	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552719538	chr12:57294547-57294548	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569570867	chr12:57294575-57294576	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111911096	chr12:57294589-57294590	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530502254	chr12:57294619-57294620	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149090586	chr12:57294630-57294631	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58639339	chr12:57294661-57294662	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534550999	chr12:57294688-57294689	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57288200-57293600	Enhancers	Liver	Liver
2	chr12:57290200-57293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57290200-57293600	Weak transcription	Gastric	stomach
4	chr12:57290200-57293600	Weak transcription	Lung	lung
5	chr12:57290400-57293600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:57291000-57295600	Enhancers	HMEC	breast
7	chr12:57291200-57295800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:57291800-57296800	Enhancers	K562	blood
9	chr12:57292600-57294600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:57292800-57293800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:57293000-57293600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:57293000-57293600	Weak transcription	NHEK	skin
13	chr12:57293600-57293800	Flanking Active TSS	Liver	Liver
14	chr12:57293600-57294400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:57293600-57294600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:57293600-57294800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:57293600-57294800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:57293600-57294800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:57293600-57294800	ZNF genes & repeats	Gastric	stomach
20	chr12:57293600-57295200	ZNF genes & repeats	Lung	lung
21	chr12:57293600-57295200	ZNF genes & repeats	NHEK	skin
22	chr12:57293600-57295600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:57293800-57294000	Active TSS	Liver	Liver
24	chr12:57293800-57294600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:57293800-57295000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:57293800-57295400	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr12:57294000-57294400	ZNF genes & repeats	Liver	Liver
28	chr12:57294000-57294400	ZNF genes & repeats	Esophagus	oesophagus
29	chr12:57294000-57295000	Enhancers	A549	lung
30	chr12:57294200-57295000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr12:57294400-57294600	ZNF genes & repeats	Aorta	Aorta
32	chr12:57294800-57295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:57295800-57298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:57299800-57300600	Enhancers	Liver	Liver
35	chr12:57300600-57303200	Weak transcription	Liver	Liver
36	chr12:57301800-57302000	Enhancers	Esophagus	oesophagus
37	chr12:57302000-57302400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:57303200-57303800	ZNF genes & repeats	Liver	Liver
39	chr12:57308600-57309200	Enhancers	HepG2	liver
40	chr12:57308800-57311800	Enhancers	Liver	Liver
41	chr12:57315600-57316000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:57315600-57316200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:57316200-57321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:57317400-57323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:57317600-57323000	Weak transcription	Esophagus	oesophagus
47	chr12:57321200-57321600	Active TSS	Gastric	stomach
48	chr12:57321200-57324000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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