Variant report

Variant	esv3434936
Chromosome Location	chr12:73067985-73071783
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	chr12:73066407..73068991-chr12:73070185..73072919,2	K562	blood:
2	chr12:73066407..73068991-chr12:73070185..73072919,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569854277	chr12:73067992-73067993	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577075520	chr12:73068005-73068006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184543172	chr12:73068019-73068020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116446893	chr12:73068024-73068025	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574568267	chr12:73068025-73068026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111752404	chr12:73068028-73068029	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115921524	chr12:73068073-73068074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189474669	chr12:73068085-73068086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373132700	chr12:73068149-73068150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527293023	chr12:73068150-73068151	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547233227	chr12:73068223-73068224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192174529	chr12:73068276-73068277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs11179315	chr12:73068285-73068286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79504235	chr12:73068290-73068291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs77423931	chr12:73068292-73068293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79779913	chr12:73068294-73068295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78686600	chr12:73068298-73068299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73330621	chr12:73068299-73068300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140674881	chr12:73068352-73068353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368662853	chr12:73068357-73068358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200245904	chr12:73068359-73068360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569145250	chr12:73068390-73068391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530205370	chr12:73068441-73068442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs28502135	chr12:73068455-73068456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566816276	chr12:73068473-73068474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200744429	chr12:73068474-73068475	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184235221	chr12:73068491-73068492	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs28604455	chr12:73068498-73068499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570736862	chr12:73068529-73068530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146273496	chr12:73068566-73068567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs386764180	chr12:73068581-73068582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs724275	chr12:73068585-73068586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541863709	chr12:73068678-73068679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576014594	chr12:73068704-73068705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188566449	chr12:73068763-73068764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368104368	chr12:73068846-73068847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571974522	chr12:73068896-73068897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5799084	chr12:73068899-73068900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs398076744	chr12:73068900-73068901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545506028	chr12:73068916-73068917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371739728	chr12:73068931-73068932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376941159	chr12:73068935-73068936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563769066	chr12:73068988-73068989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532654134	chr12:73068990-73068991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535785466	chr12:73069006-73069007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138745902	chr12:73069014-73069015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181687320	chr12:73069017-73069018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111764106	chr12:73069018-73069019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554247309	chr12:73069021-73069022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557661930	chr12:73069022-73069023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73066800-73069000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:73067200-73071000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:73067400-73071400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:73067600-73068000	Active TSS	GM12878-XiMat	blood
5	chr12:73067600-73069800	Enhancers	Primary B cells from cord blood	blood
6	chr12:73068000-73068600	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:73068600-73068800	Enhancers	GM12878-XiMat	blood
8	chr12:73069000-73070800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:73069400-73069600	Enhancers	Liver	Liver
10	chr12:73069600-73070600	Weak transcription	Liver	Liver
11	chr12:73069800-73071200	Weak transcription	Primary B cells from cord blood	blood
12	chr12:73070400-73071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:73070600-73071200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:73070600-73071600	Enhancers	Liver	Liver
17	chr12:73070800-73071400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:73070800-73072200	Enhancers	Fetal Intestine Large	intestine
19	chr12:73070800-73072400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:73071000-73071200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:73071000-73071600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:73071000-73072400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:73071000-73072400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:73071200-73071600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:73071200-73071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:73071200-73071800	Enhancers	Primary B cells from cord blood	blood
27	chr12:73071200-73072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:73071200-73072800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:73071400-73071600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:73071400-73072200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:73071600-73071800	Flanking Active TSS	Liver	Liver
32	chr12:73071600-73072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:73071600-73072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:73071600-73072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:73071600-73075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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