Variant report

Variant	nsv526167
Chromosome Location	chr22:27613130-27616264
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	chr22:27614255..27616554-chr22:27616988..27619608,2	MCF-7	breast:

Extended variants
information (count: 181 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536459	chr22:27613130-27613131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181369505	chr22:27613168-27613169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536532170	chr22:27613192-27613193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146532546	chr22:27613193-27613194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185790116	chr22:27613265-27613266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538293	chr22:27613318-27613319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs558138022	chr22:27613357-27613358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570486481	chr22:27613366-27613367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539839322	chr22:27613400-27613401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs576815158	chr22:27613407-27613408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs79639894	chr22:27613425-27613426	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs12159361	chr22:27613467-27613468	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574608463	chr22:27613476-27613477	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs542122101	chr22:27613508-27613509	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs191048911	chr22:27613525-27613526	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs545188688	chr22:27613562-27613563	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs145574250	chr22:27613563-27613564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs368938435	chr22:27613581-27613582	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs115322467	chr22:27613586-27613587	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs532493037	chr22:27613611-27613612	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs182004292	chr22:27613621-27613622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs559673123	chr22:27613628-27613629	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs530289994	chr22:27613655-27613656	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs548386900	chr22:27613658-27613659	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs569970623	chr22:27613661-27613662	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs537350132	chr22:27613678-27613679	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs556319606	chr22:27613685-27613686	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs148844253	chr22:27613686-27613687	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs186543685	chr22:27613692-27613693	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs570113914	chr22:27613701-27613702	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs79689745	chr22:27613714-27613715	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs192497098	chr22:27613720-27613721	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs112737992	chr22:27613727-27613728	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs150928195	chr22:27613771-27613772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs147854248	chr22:27613834-27613835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575608234	chr22:27613845-27613846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561713854	chr22:27613914-27613915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369678958	chr22:27613927-27613928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558666447	chr22:27613930-27613931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113339743	chr22:27613948-27613949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142005344	chr22:27613955-27613956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559761168	chr22:27613959-27613960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183202934	chr22:27613990-27613991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541971418	chr22:27613998-27613999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145771363	chr22:27614003-27614004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531100399	chr22:27614007-27614008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552484946	chr22:27614028-27614029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75361412	chr22:27614032-27614033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185195302	chr22:27614034-27614035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541696947	chr22:27614068-27614069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Cancer	21183584	CNVD
Breast cancer	17142309	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27606800-27620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27609200-27615800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:27610000-27613400	Weak transcription	Right Atrium	heart
4	chr22:27610200-27616000	Weak transcription	Fetal Intestine Small	intestine
5	chr22:27611000-27614200	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:27611000-27615800	Weak transcription	NH-A	brain
7	chr22:27611400-27614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:27611400-27616000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:27611600-27613400	Weak transcription	Ovary	ovary
10	chr22:27611600-27613600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:27611600-27615800	Weak transcription	Osteobl	bone
12	chr22:27611800-27614200	Weak transcription	Fetal Stomach	stomach
13	chr22:27611800-27616000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:27612200-27613200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:27612200-27615800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:27612600-27614200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:27612800-27614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:27613000-27615200	Enhancers	A549	lung
19	chr22:27613200-27613400	Enhancers	Lung	lung
20	chr22:27613200-27614400	Weak transcription	Brain Germinal Matrix	brain
21	chr22:27613200-27615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:27613400-27613600	Enhancers	Right Atrium	heart
23	chr22:27613400-27613800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr22:27613400-27614200	Weak transcription	Lung	lung
25	chr22:27613400-27615200	Enhancers	Ovary	ovary
26	chr22:27613400-27617000	Enhancers	Adipose Nuclei	Adipose
27	chr22:27613600-27613800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:27613600-27614000	Weak transcription	Right Atrium	heart
29	chr22:27613600-27615400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:27613800-27614200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:27613800-27615400	Enhancers	Stomach Smooth Muscle	stomach
32	chr22:27614000-27614600	Enhancers	Right Atrium	heart
33	chr22:27614200-27614400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:27614200-27614400	Enhancers	Fetal Muscle Leg	muscle
35	chr22:27614200-27614600	Genic enhancers	Placenta Amnion	Placenta Amnion
36	chr22:27614200-27614800	Enhancers	Fetal Stomach	stomach
37	chr22:27614200-27615000	Enhancers	Fetal Muscle Trunk	muscle
38	chr22:27614200-27615000	Enhancers	Lung	lung
39	chr22:27614400-27614800	Enhancers	Brain Germinal Matrix	brain
40	chr22:27614400-27615000	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr22:27614400-27615400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:27614400-27615600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:27614600-27617000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr22:27614800-27615000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr22:27614800-27615200	Bivalent Enhancer	Fetal Stomach	stomach
46	chr22:27615000-27615400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr22:27615000-27615400	Enhancers	Fetal Muscle Leg	muscle
48	chr22:27615200-27615400	Enhancers	Fetal Stomach	stomach
49	chr22:27615200-27616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:27615200-27616200	Weak transcription	A549	lung

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