Variant report

Variant	esv1847099
Chromosome Location	chr12:22003544-22035425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:22015594..22017294-chr12:22022518..22025494,2	MCF-7	breast:
2	chr12:22017240..22019751-chr12:22023346..22025897,2	K562	blood:
3	chr12:22017240..22019751-chr12:22023346..22025897,2	K562	blood:
4	chr12:22015594..22017294-chr12:22022518..22025494,2	MCF-7	breast:
5	chr12:22034102..22036993-chr12:22040454..22043984,3	K562	blood:
6	chr12:22031693..22034334-chr13:31039008..31041172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 1195 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4148674	chr12:22003544-22003545	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35992857	chr12:22003608-22003609	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4148673	chr12:22003661-22003662	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs536143180	chr12:22003695-22003696	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11046211	chr12:22003722-22003723	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11837393	chr12:22003727-22003728	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575059957	chr12:22003766-22003767	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540258741	chr12:22003840-22003841	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188715633	chr12:22003846-22003847	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181238214	chr12:22003852-22003853	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545923793	chr12:22003879-22003880	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562557670	chr12:22003905-22003906	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138083906	chr12:22003930-22003931	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548332910	chr12:22003936-22003937	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571885071	chr12:22003948-22003949	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185349273	chr12:22003964-22003965	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527562217	chr12:22003977-22003978	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546637858	chr12:22003987-22003988	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566521664	chr12:22004133-22004134	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76870823	chr12:22004147-22004148	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552272039	chr12:22004190-22004191	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7966849	chr12:22004198-22004199	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs143781256	chr12:22004219-22004220	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368420235	chr12:22004269-22004270	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7966768	chr12:22004281-22004282	Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs375297148	chr12:22004287-22004288	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188209221	chr12:22004290-22004291	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554465038	chr12:22004398-22004399	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111510890	chr12:22004435-22004436	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545787485	chr12:22004464-22004465	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556000786	chr12:22004504-22004505	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576072430	chr12:22004510-22004511	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180797792	chr12:22004586-22004587	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561918977	chr12:22004609-22004610	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139911321	chr12:22004612-22004613	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143850305	chr12:22004630-22004631	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111639992	chr12:22004671-22004672	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577686167	chr12:22004683-22004684	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543438271	chr12:22004724-22004725	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532382904	chr12:22004746-22004747	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75617781	chr12:22004771-22004772	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569277679	chr12:22004797-22004798	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531826473	chr12:22004817-22004818	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548539481	chr12:22004826-22004827	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568647473	chr12:22004831-22004832	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534343364	chr12:22004832-22004833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200816311	chr12:22004837-22004838	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147264647	chr12:22004866-22004867	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571124856	chr12:22004883-22004884	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187575983	chr12:22004893-22004894	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21985400-22005000	Weak transcription	NHLF	lung
3	chr12:21985800-22004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:21995600-22004400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:21995600-22022200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:21995800-22022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:21997600-22016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:21999200-22015400	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:21999800-22003600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:22001400-22011400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:22002800-22003600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:22002800-22003800	Enhancers	Fetal Lung	lung
14	chr12:22002800-22004000	Genic enhancers	Liver	Liver
15	chr12:22002800-22004000	Enhancers	Fetal Heart	heart
16	chr12:22003000-22003800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:22003200-22003600	Enhancers	Adipose Nuclei	Adipose
18	chr12:22003200-22004000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:22003400-22008600	Weak transcription	Pancreas	Pancrea
20	chr12:22003400-22014200	Weak transcription	Left Ventricle	heart
21	chr12:22003400-22015800	Weak transcription	Right Ventricle	heart
22	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
23	chr12:22003600-22003800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:22003600-22014600	Weak transcription	Adipose Nuclei	Adipose
25	chr12:22003600-22022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:22003800-22004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:22004000-22004400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:22004000-22005000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:22004000-22007000	Strong transcription	Liver	Liver
30	chr12:22004000-22010400	Weak transcription	Fetal Heart	heart
31	chr12:22004200-22004400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:22004400-22004800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:22004400-22004800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:22004400-22005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:22004800-22005000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:22004800-22005200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:22004800-22005800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:22005000-22005400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:22005000-22005400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:22005000-22005400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:22005000-22005600	Enhancers	NHLF	lung
42	chr12:22005000-22005800	Enhancers	Osteobl	bone
43	chr12:22005200-22005600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:22005400-22005600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:22005600-22006600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:22005800-22006800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:22005800-22007000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:22006600-22007800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:22006800-22007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:22007000-22008600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links