Variant report

Variant	esv33521
Chromosome Location	chr12:31994332-31995809
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	chr12:31879460..31882870-chr12:31994967..32002077,7	K562	blood:

Variant related genes	Relation type
ENSG00000151743	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 57 )

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	rs549857751	chr12:31994358-31994359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143877750	chr12:31994403-31994404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561307802	chr12:31994447-31994448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61929433	chr12:31994470-31994471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371658093	chr12:31994473-31994474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398019102	chr12:31994499-31994500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1259776	chr12:31994534-31994535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201289181	chr12:31994542-31994543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563933202	chr12:31994556-31994557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545974894	chr12:31994557-31994558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547360571	chr12:31994571-31994572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188753910	chr12:31994584-31994585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565946044	chr12:31994586-31994587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181143337	chr12:31994592-31994593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571338679	chr12:31994627-31994628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140391651	chr12:31994628-31994629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547599035	chr12:31994647-31994648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11051624	chr12:31994700-31994701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374994650	chr12:31994712-31994713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536180839	chr12:31994738-31994739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10844026	chr12:31994740-31994741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185981342	chr12:31994765-31994766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538667167	chr12:31994778-31994779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76588196	chr12:31994780-31994781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113745920	chr12:31994785-31994786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558645961	chr12:31994810-31994811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555006401	chr12:31994811-31994812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189260889	chr12:31994816-31994817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12306409	chr12:31994897-31994898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534785392	chr12:31995124-31995125	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375456103	chr12:31995180-31995181	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570228069	chr12:31995209-31995210	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537670232	chr12:31995267-31995268	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182340979	chr12:31995374-31995375	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186232355	chr12:31995435-31995436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190640641	chr12:31995470-31995471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76863842	chr12:31995498-31995499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147292925	chr12:31995508-31995509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545145104	chr12:31995525-31995526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75628510	chr12:31995528-31995529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182816750	chr12:31995538-31995539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199524019	chr12:31995590-31995591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571004576	chr12:31995656-31995657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34539025	chr12:31995665-31995666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397822434	chr12:31995666-31995667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185759530	chr12:31995719-31995720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560607662	chr12:31995727-31995728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529840342	chr12:31995765-31995766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549534420	chr12:31995784-31995785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532048151	chr12:31995787-31995788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31985600-32000800	Weak transcription	Thymus	Thymus
2	chr12:31988600-31996600	Weak transcription	Stomach Mucosa	stomach
3	chr12:31991200-31994800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:31992000-31996200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:31994800-31995400	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr12:31995400-31996400	Weak transcription	Primary B cells from cord blood	blood

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