Variant report

Variant	esv1847856
Chromosome Location	chr2:19983563-19989402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:19986165..19988032-chr2:20101157..20102793,2	K562	blood:
2	chr2:19984516..19987082-chr2:19990162..19992121,2	MCF-7	breast:
3	chr2:19988181..19991165-chr2:20075631..20078217,2	K562	blood:
4	chr2:19983582..19988390-chr2:19994942..20000184,6	MCF-7	breast:
5	chr2:19984950..19987899-chr2:19994485..19997173,2	K562	blood:
6	chr2:19987455..19988268-chr2:150183980..150184861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183891	chromatin interactions
ENSG00000271991	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376623577	chr2:19983580-19983581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183720283	chr2:19983587-19983588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140944534	chr2:19983598-19983599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111665185	chr2:19983650-19983651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150648321	chr2:19983651-19983652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547918690	chr2:19983652-19983653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146644414	chr2:19983674-19983675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112391059	chr2:19983685-19983686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111912222	chr2:19983688-19983689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546158619	chr2:19983701-19983702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73231306	chr2:19983706-19983707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531297762	chr2:19983731-19983732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541866588	chr2:19983743-19983744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373620213	chr2:19983752-19983753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112208936	chr2:19983754-19983755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188193601	chr2:19983883-19983884	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371927729	chr2:19983926-19983927	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369591694	chr2:19983931-19983932	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372724297	chr2:19983945-19983946	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62110854	chr2:19983951-19983952	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570548338	chr2:19983959-19983960	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533184872	chr2:19983972-19983973	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367803447	chr2:19983974-19983975	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568045329	chr2:19983983-19983984	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375844231	chr2:19983992-19983993	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371513179	chr2:19983994-19983995	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375988640	chr2:19983998-19983999	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377298459	chr2:19984004-19984005	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368472283	chr2:19984011-19984012	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376032572	chr2:19984013-19984014	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372554389	chr2:19984022-19984023	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113133187	chr2:19984032-19984033	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375522650	chr2:19984046-19984047	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369650247	chr2:19984055-19984056	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372874596	chr2:19984057-19984058	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376030623	chr2:19984060-19984061	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540907032	chr2:19984064-19984065	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386643805	chr2:19984073-19984074	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114080967	chr2:19984074-19984075	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114632943	chr2:19984075-19984076	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368986811	chr2:19984081-19984082	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372477828	chr2:19984082-19984083	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376489013	chr2:19984083-19984084	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200955464	chr2:19984093-19984094	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386643806	chr2:19984094-19984095	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371010596	chr2:19984095-19984096	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144848466	chr2:19984103-19984104	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114467549	chr2:19984104-19984105	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386643807	chr2:19984107-19984108	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373738235	chr2:19984111-19984112	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19977200-19985200	Weak transcription	Aorta	Aorta
2	chr2:19978200-19984600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:19981400-19985600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:19981600-19983800	Weak transcription	K562	blood
5	chr2:19982600-19983600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:19983000-19986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:19983200-19984800	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:19983400-19984000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:19983600-19984600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:19983800-19984200	Active TSS	Right Ventricle	heart
11	chr2:19983800-19984200	Enhancers	K562	blood
12	chr2:19984000-19984400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:19984200-19984400	Active TSS	Left Ventricle	heart
14	chr2:19984200-19984800	Flanking Active TSS	Right Ventricle	heart
15	chr2:19984200-19985200	Weak transcription	K562	blood
16	chr2:19984200-19987000	Enhancers	HMEC	breast
17	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:19984400-19984800	Flanking Active TSS	Left Ventricle	heart
19	chr2:19984400-19985200	Enhancers	Right Atrium	heart
20	chr2:19984400-19985600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:19984600-19986200	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:19984600-19986800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:19984600-19987000	Enhancers	Osteobl	bone
24	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:19984800-19985000	Enhancers	HUVEC	blood vessel
26	chr2:19984800-19985200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:19984800-19985200	Active TSS	Right Ventricle	heart
28	chr2:19984800-19985600	Enhancers	Fetal Heart	heart
29	chr2:19984800-19986000	Enhancers	Fetal Muscle Leg	muscle
30	chr2:19984800-19986400	Enhancers	Left Ventricle	heart
31	chr2:19984800-19986800	Enhancers	Adipose Nuclei	Adipose
32	chr2:19984800-19986800	Enhancers	Psoas Muscle	Psoas
33	chr2:19984800-19987000	Enhancers	Hela-S3	cervix
34	chr2:19984800-19987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:19984800-19987200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:19985000-19986000	Weak transcription	HUVEC	blood vessel
37	chr2:19985200-19985400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:19985200-19986000	Enhancers	K562	blood
39	chr2:19985200-19986400	Enhancers	Right Ventricle	heart
40	chr2:19985200-19986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:19985200-19986800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:19985200-19986800	Enhancers	Aorta	Aorta
43	chr2:19985200-19986800	Enhancers	NHEK	skin
44	chr2:19985200-19987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:19985200-19987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:19985200-19987000	Enhancers	NHDF-Ad	bronchial
47	chr2:19985200-19987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:19985200-19987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:19985200-19987200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:19985200-19990200	Weak transcription	Right Atrium	heart

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