Variant report

Variant	esv3405315
Chromosome Location	chr2:19981971-19986169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000271991	chromatin interactions
ENSG00000183891	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4488617	chr2:19982074-19982075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554806948	chr2:19982094-19982095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184851458	chr2:19982109-19982110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373157983	chr2:19982126-19982127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4493219	chr2:19982146-19982147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113315385	chr2:19982166-19982167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181851432	chr2:19982167-19982168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376140182	chr2:19982201-19982202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1204009	chr2:19982206-19982207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4632303	chr2:19982251-19982252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186508094	chr2:19982267-19982268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191450662	chr2:19982283-19982284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138031835	chr2:19982351-19982352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561139446	chr2:19982382-19982383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376290693	chr2:19982412-19982413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546865893	chr2:19982429-19982430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181083986	chr2:19982436-19982437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532096229	chr2:19982459-19982460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566859175	chr2:19982475-19982476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112532085	chr2:19982495-19982496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552334632	chr2:19982520-19982521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570318759	chr2:19982565-19982566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1204010	chr2:19982570-19982571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537553097	chr2:19982591-19982592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146036252	chr2:19982597-19982598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568239347	chr2:19982622-19982623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534014256	chr2:19982635-19982636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554074917	chr2:19982660-19982661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13431316	chr2:19982662-19982663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185154127	chr2:19982690-19982691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375729042	chr2:19982717-19982718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548495468	chr2:19982749-19982750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148700283	chr2:19982838-19982839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558687224	chr2:19982869-19982870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534140761	chr2:19982942-19982943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575632275	chr2:19982949-19982950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117679166	chr2:19982951-19982952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141146650	chr2:19982977-19982978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150731749	chr2:19983048-19983049	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189567841	chr2:19983063-19983064	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183394081	chr2:19983086-19983087	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139069421	chr2:19983114-19983115	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545744667	chr2:19983138-19983139	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60681070	chr2:19983183-19983184	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531360983	chr2:19983184-19983185	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566797929	chr2:19983216-19983217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539499722	chr2:19983227-19983228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548289851	chr2:19983228-19983229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145141923	chr2:19983236-19983237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527452773	chr2:19983258-19983259	Weak transcription 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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19975600-19982600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:19977200-19985200	Weak transcription	Aorta	Aorta
3	chr2:19978200-19984600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:19981400-19985600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:19981600-19983800	Weak transcription	K562	blood
6	chr2:19982600-19983000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:19982600-19983200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:19982600-19983600	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:19983000-19983200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:19983000-19986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:19983200-19984800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:19983400-19984000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:19983600-19984600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:19983800-19984200	Active TSS	Right Ventricle	heart
15	chr2:19983800-19984200	Enhancers	K562	blood
16	chr2:19984000-19984400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:19984200-19984400	Active TSS	Left Ventricle	heart
18	chr2:19984200-19984800	Flanking Active TSS	Right Ventricle	heart
19	chr2:19984200-19985200	Weak transcription	K562	blood
20	chr2:19984200-19987000	Enhancers	HMEC	breast
21	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:19984400-19984800	Flanking Active TSS	Left Ventricle	heart
23	chr2:19984400-19985200	Enhancers	Right Atrium	heart
24	chr2:19984400-19985600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:19984600-19986200	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:19984600-19986800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:19984600-19987000	Enhancers	Osteobl	bone
28	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:19984800-19985000	Enhancers	HUVEC	blood vessel
30	chr2:19984800-19985200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:19984800-19985200	Active TSS	Right Ventricle	heart
32	chr2:19984800-19985600	Enhancers	Fetal Heart	heart
33	chr2:19984800-19986000	Enhancers	Fetal Muscle Leg	muscle
34	chr2:19984800-19986400	Enhancers	Left Ventricle	heart
35	chr2:19984800-19986800	Enhancers	Adipose Nuclei	Adipose
36	chr2:19984800-19986800	Enhancers	Psoas Muscle	Psoas
37	chr2:19984800-19987000	Enhancers	Hela-S3	cervix
38	chr2:19984800-19987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:19984800-19987200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:19985000-19986000	Weak transcription	HUVEC	blood vessel
41	chr2:19985200-19985400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:19985200-19986000	Enhancers	K562	blood
43	chr2:19985200-19986400	Enhancers	Right Ventricle	heart
44	chr2:19985200-19986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:19985200-19986800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:19985200-19986800	Enhancers	Aorta	Aorta
47	chr2:19985200-19986800	Enhancers	NHEK	skin
48	chr2:19985200-19987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:19985200-19987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:19985200-19987000	Enhancers	NHDF-Ad	bronchial

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