Variant report

Variant	esv2761736
Chromosome Location	chr12:43005994-43012946
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	chr12:43000891..43003233-chr12:43008593..43011399,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRICKLE1-1	chr12:43009305-43009764	ENSG00000257510

Variant related genes	Relation type
TGFBR2	miRNA target sites

Extended variants
information (count: 292 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4321015	chr12:43005994-43005995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533156692	chr12:43006077-43006078	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551766439	chr12:43006126-43006127	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4238085	chr12:43006135-43006136	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187434414	chr12:43006137-43006138	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143553839	chr12:43006164-43006165	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190513827	chr12:43006179-43006180	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535281851	chr12:43006209-43006210	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117912059	chr12:43006211-43006212	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578223009	chr12:43006228-43006229	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538223509	chr12:43006347-43006348	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556917991	chr12:43006348-43006349	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2406862	chr12:43006387-43006388	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562787168	chr12:43006414-43006415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542305627	chr12:43006425-43006426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181678123	chr12:43006448-43006449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572677136	chr12:43006467-43006468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147158787	chr12:43006482-43006483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564996816	chr12:43006497-43006498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547980842	chr12:43006537-43006538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2406861	chr12:43006540-43006541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185634103	chr12:43006545-43006546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148250366	chr12:43006563-43006564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530967983	chr12:43006574-43006575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141235112	chr12:43006583-43006584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567792274	chr12:43006587-43006588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528683633	chr12:43006605-43006606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547189061	chr12:43006615-43006616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116532095	chr12:43006617-43006618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539326585	chr12:43006667-43006668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150798319	chr12:43006702-43006703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568828505	chr12:43006703-43006704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535872652	chr12:43006794-43006795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371147726	chr12:43006800-43006801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554227178	chr12:43006808-43006809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572617978	chr12:43006825-43006826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540009043	chr12:43006868-43006869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7295407	chr12:43006871-43006872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368395216	chr12:43006879-43006880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577023788	chr12:43006894-43006895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372318131	chr12:43006912-43006913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144143092	chr12:43006913-43006914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200292389	chr12:43006960-43006961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs66492369	chr12:43006964-43006965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562687117	chr12:43006974-43006975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55759020	chr12:43006975-43006976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11289382	chr12:43006977-43006978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201775854	chr12:43006979-43006980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543080675	chr12:43007003-43007004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111847659	chr12:43007046-43007047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43002800-43007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:43005000-43006000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:43005000-43006800	Enhancers	Fetal Muscle Leg	muscle
4	chr12:43005200-43006000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:43005200-43006200	Enhancers	HUVEC	blood vessel
6	chr12:43005200-43007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:43005400-43006000	Enhancers	Fetal Stomach	stomach
8	chr12:43005400-43006000	Enhancers	NHEK	skin
9	chr12:43005400-43006200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr12:43005400-43006200	Enhancers	Osteobl	bone
11	chr12:43005400-43006400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:43005400-43006400	Enhancers	NHDF-Ad	bronchial
13	chr12:43005400-43006600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:43005400-43006600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:43005400-43006800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:43005400-43006800	Enhancers	Adipose Nuclei	Adipose
17	chr12:43005600-43006000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:43005600-43006000	Enhancers	Ovary	ovary
19	chr12:43005600-43006400	Enhancers	Colon Smooth Muscle	Colon
20	chr12:43005600-43006400	Enhancers	Fetal Kidney	kidney
21	chr12:43005600-43006600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:43005600-43006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:43005800-43006200	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:43005800-43006400	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:43006000-43007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:43006000-43007600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:43006000-43015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:43006400-43007400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:43006600-43007000	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:43007000-43007200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:43007400-43007600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:43007400-43008200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:43007400-43009000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:43008200-43016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:43009000-43009800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:43011400-43011600	ZNF genes & repeats	Pancreas	Pancrea
37	chr12:43011600-43015000	Weak transcription	Pancreas	Pancrea

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