Variant report

Variant	esv3330446
Chromosome Location	chr12:8964460-8966708
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	chr12:8966691..8968770-chr12:8970773..8972791,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78390368	chr12:8964460-8964461	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184564819	chr12:8964503-8964504	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188628865	chr12:8964618-8964619	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2969083	chr12:8964634-8964635	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs193284585	chr12:8964644-8964645	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs12311105	chr12:8964675-8964676	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10771078	chr12:8964708-8964709	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs139765753	chr12:8964753-8964754	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2969082	chr12:8964758-8964759	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566296185	chr12:8964836-8964837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12304270	chr12:8964906-8964907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111855692	chr12:8965054-8965055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184254908	chr12:8965075-8965076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55914424	chr12:8965170-8965171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56382968	chr12:8965191-8965192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55692521	chr12:8965197-8965198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56381313	chr12:8965198-8965199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56267325	chr12:8965203-8965204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56013031	chr12:8965209-8965210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143719566	chr12:8965225-8965226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11047366	chr12:8965251-8965252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111928066	chr12:8965267-8965268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11047367	chr12:8965274-8965275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11047368	chr12:8965282-8965283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200931531	chr12:8965347-8965348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10611304	chr12:8965393-8965394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398116079	chr12:8965395-8965396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369404677	chr12:8965396-8965397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201874584	chr12:8965399-8965400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71952432	chr12:8965400-8965401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55951259	chr12:8965408-8965409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113447575	chr12:8965526-8965527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139029451	chr12:8965562-8965563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7975731	chr12:8965609-8965610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147531481	chr12:8965732-8965733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13377778	chr12:8965747-8965748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181580431	chr12:8965805-8965806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183817507	chr12:8965839-8965840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140096750	chr12:8965842-8965843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377531155	chr12:8965861-8965862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370135608	chr12:8965898-8965899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150028319	chr12:8965918-8965919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144497475	chr12:8965922-8965923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10771079	chr12:8965972-8965973	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111278090	chr12:8966006-8966007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113718385	chr12:8966040-8966041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113300258	chr12:8966047-8966048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189945414	chr12:8966048-8966049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142557508	chr12:8966061-8966062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180749534	chr12:8966096-8966097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8960000-8972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:8961400-8966600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:8961400-8969200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:8963000-8966400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:8963000-8970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:8963200-8965600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:8963200-8966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:8963400-8965800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:8963400-8965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:8963400-8966400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:8963400-8966400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:8963400-8966400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:8963800-8965800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:8963800-8966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:8964200-8964800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:8964400-8964800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:8964800-8965000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:8964800-8966600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:8965000-8966600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:8965600-8967200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:8965800-8966000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr12:8965800-8966400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:8965800-8967200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:8965800-8967200	Enhancers	Brain Germinal Matrix	brain
25	chr12:8965800-8968400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:8966000-8966600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:8966400-8966600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:8966400-8966600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:8966400-8966600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:8966400-8966800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:8966400-8967000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:8966400-8969200	Enhancers	K562	blood
33	chr12:8966600-8966800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:8966600-8966800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:8966600-8967000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:8966600-8967000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:8966600-8967000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:8966600-8967000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:8966600-8967000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:8966600-8967200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr12:8966600-8967200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:8966600-8967200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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