Variant report

Variant	nsv52934
Chromosome Location	chr12:31721932-31731107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31715871..31718697-chr12:31719904..31722778,2	K562	blood:
2	chr12:31725804..31727316-chr12:31729688..31732236,2	K562	blood:
3	chr12:31727734..31729670-chr12:31731593..31733122,2	MCF-7	breast:
4	chr12:31730582..31735738-chr12:31737602..31740641,5	K562	blood:
5	chr12:31476842..31478576-chr12:31720027..31722337,2	K562	blood:
6	chr12:31727967..31729813-chr12:31742759..31744417,2	K562	blood:
7	chr12:31725804..31727316-chr12:31729688..31732236,2	K562	blood:

Variant related genes	Relation type
ENSG00000139146	chromatin interactions
ENSG00000255867	chromatin interactions
ENSG00000170456	chromatin interactions
ENSG00000177340	chromatin interactions

Extended variants
information (count: 379 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527889633	chr12:31721946-31721947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547722724	chr12:31721981-31721982	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117531018	chr12:31722028-31722029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185701640	chr12:31722050-31722051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1677186	chr12:31722100-31722101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568537019	chr12:31722125-31722126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571990238	chr12:31722126-31722127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190607993	chr12:31722175-31722176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181912427	chr12:31722224-31722225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186797288	chr12:31722247-31722248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138062820	chr12:31722251-31722252	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573756068	chr12:31722259-31722260	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191239256	chr12:31722288-31722289	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs556462902	chr12:31722295-31722296	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576514215	chr12:31722300-31722301	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554740511	chr12:31722326-31722327	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35884308	chr12:31722329-31722330	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11051467	chr12:31722352-31722353	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565276857	chr12:31722378-31722379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527824436	chr12:31722438-31722439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543852640	chr12:31722456-31722457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541500992	chr12:31722471-31722472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561353642	chr12:31722492-31722493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530277892	chr12:31722494-31722495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550080396	chr12:31722509-31722510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544703795	chr12:31722589-31722590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563666484	chr12:31722602-31722603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181088527	chr12:31722605-31722606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371537384	chr12:31722661-31722662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532660313	chr12:31722676-31722677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185368488	chr12:31722699-31722700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2682461	chr12:31722717-31722718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375506799	chr12:31722752-31722753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571203263	chr12:31722796-31722797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112534654	chr12:31722847-31722848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12814798	chr12:31722855-31722856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12813413	chr12:31722863-31722864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547436726	chr12:31722865-31722866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12813258	chr12:31722881-31722882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12813259	chr12:31722883-31722884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112793596	chr12:31722901-31722902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12813271	chr12:31722907-31722908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12813433	chr12:31722929-31722930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567372401	chr12:31722930-31722931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12813440	chr12:31722942-31722943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12813442	chr12:31722944-31722945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536400637	chr12:31722945-31722946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12813448	chr12:31722950-31722951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12813455	chr12:31722957-31722958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12813464	chr12:31722972-31722973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31696200-31722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:31709200-31727600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:31709400-31722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31710200-31723800	Weak transcription	Pancreas	Pancrea
5	chr12:31711000-31727400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:31712200-31723600	Weak transcription	NH-A	brain
7	chr12:31714200-31726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:31714200-31728600	Weak transcription	Psoas Muscle	Psoas
9	chr12:31715800-31723600	Weak transcription	Fetal Brain Female	brain
10	chr12:31716200-31723600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:31716200-31723600	Weak transcription	Fetal Heart	heart
12	chr12:31716400-31723600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:31716600-31724000	Weak transcription	Gastric	stomach
14	chr12:31716800-31722600	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:31718600-31723600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:31719000-31723800	Weak transcription	Left Ventricle	heart
17	chr12:31719000-31731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:31719600-31722000	Enhancers	A549	lung
19	chr12:31720000-31727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:31720000-31731400	Weak transcription	Brain Germinal Matrix	brain
21	chr12:31720200-31727400	Weak transcription	Brain Anterior Caudate	brain
22	chr12:31720400-31722600	Enhancers	Ovary	ovary
23	chr12:31720400-31723600	Weak transcription	NHLF	lung
24	chr12:31720600-31722400	Enhancers	HepG2	liver
25	chr12:31721000-31722000	Enhancers	Primary B cells from cord blood	blood
26	chr12:31721000-31722200	Weak transcription	Fetal Intestine Small	intestine
27	chr12:31721000-31724000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:31721000-31726400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:31721400-31722000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:31721400-31722000	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:31721400-31722800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:31721600-31722200	Enhancers	HSMM	muscle
33	chr12:31721600-31722400	Enhancers	Liver	Liver
34	chr12:31721600-31723600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:31721600-31742400	Weak transcription	Aorta	Aorta
36	chr12:31721800-31722200	Enhancers	Adipose Nuclei	Adipose
37	chr12:31721800-31722600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:31721800-31722800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:31721800-31723600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:31721800-31723600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:31721800-31723600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:31721800-31723800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:31721800-31723800	Weak transcription	Hela-S3	cervix
44	chr12:31721800-31723800	Weak transcription	Osteobl	bone
45	chr12:31721800-31726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:31722000-31722600	Enhancers	GM12878-XiMat	blood
47	chr12:31722000-31723600	Weak transcription	A549	lung
48	chr12:31722000-31726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:31722200-31722400	Strong transcription	Fetal Intestine Small	intestine
50	chr12:31722200-31722600	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links