Variant report

Variant	nsv1064910
Chromosome Location	chr22:27609597-27648408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr22:27648117-27648685	A549	lung:	n/a	n/a
2	ATF3	chr22:27613922-27614299	A549	lung:	n/a	n/a
3	ATF3	chr22:27634899-27635430	A549	lung:	n/a	n/a
4	ATF3	chr22:27638768-27639272	A549	lung:	n/a	chr22:27639102-27639111
5	ATF3	chr22:27648126-27648609	A549	lung:	n/a	n/a
6	ATF3	chr22:27634985-27635640	A549	lung:	n/a	n/a
7	ATF3	chr22:27638801-27639253	A549	lung:	n/a	chr22:27639102-27639111
8	BCL3	chr22:27613758-27614401	A549	lung:	n/a	n/a
9	BCL3	chr22:27638708-27639359	A549	lung:	n/a	chr22:27639101-27639110
10	BCL3	chr22:27613892-27614408	A549	lung:	n/a	n/a
11	BCL3	chr22:27634879-27635702	A549	lung:	n/a	n/a
12	BCL3	chr22:27648011-27648625	A549	lung:	n/a	n/a
13	BCL3	chr22:27634887-27635592	A549	lung:	n/a	n/a
14	BCL3	chr22:27648119-27648663	A549	lung:	n/a	n/a
15	BHLHE40	chr22:27634979-27635318	K562	blood:	n/a	n/a
16	CEBPB	chr22:27615346-27615393	HepG2	liver:	n/a	n/a
17	CEBPB	chr22:27613975-27614188	HepG2	liver:	n/a	chr22:27614122-27614133
18	CEBPB	chr22:27648141-27648767	A549	lung:	n/a	chr22:27648397-27648408
19	CEBPB	chr22:27648246-27648647	MCF-7	breast:	n/a	chr22:27648397-27648408
20	CEBPB	chr22:27613748-27614576	A549	lung:	n/a	chr22:27614122-27614133
21	CEBPB	chr22:27610003-27610531	IMR90	lung:	n/a	chr22:27610477-27610494
22	CEBPB	chr22:27640269-27640669	MCF-7	breast:	n/a	chr22:27640433-27640444
23	CEBPB	chr22:27648186-27648627	HCT-116	colon:	n/a	chr22:27648397-27648408
24	CEBPB	chr22:27619469-27620035	A549	lung:	n/a	n/a
25	CEBPB	chr22:27640177-27640692	A549	lung:	n/a	chr22:27640433-27640444
26	CEBPB	chr22:27634921-27635218	Hela-S3	cervix:	n/a	chr22:27635055-27635066
27	CEBPB	chr22:27634868-27635406	A549	lung:	n/a	chr22:27635055-27635066
28	CEBPB	chr22:27619452-27619957	IMR90	lung:	n/a	n/a
29	CEBPB	chr22:27640110-27640830	A549	lung:	n/a	chr22:27640433-27640444
30	CEBPB	chr22:27613875-27614393	MCF-7	breast:	n/a	chr22:27614122-27614133
31	CEBPB	chr22:27613880-27614435	A549	lung:	n/a	chr22:27614122-27614133
32	CEBPB	chr22:27613991-27614208	IMR90	lung:	n/a	chr22:27614122-27614133
33	CEBPB	chr22:27648079-27648667	A549	lung:	n/a	chr22:27648397-27648408
34	CEBPB	chr22:27634928-27635189	K562	blood:	n/a	chr22:27635055-27635066
35	CEBPB	chr22:27634853-27635378	IMR90	lung:	n/a	chr22:27635055-27635066
36	CEBPB	chr22:27634873-27635243	MCF-7	breast:	n/a	chr22:27635055-27635066
37	CEBPB	chr22:27648282-27648450	H1-hESC	embryonic stem cell:	n/a	chr22:27648397-27648408
38	CEBPB	chr22:27640247-27640629	IMR90	lung:	n/a	chr22:27640433-27640444
39	CEBPB	chr22:27640241-27640686	A549	lung:	n/a	chr22:27640433-27640444
40	CEBPB	chr22:27613828-27614403	A549	lung:	n/a	chr22:27614122-27614133
41	CEBPB	chr22:27648287-27648453	K562	blood:	n/a	chr22:27648397-27648408
42	CEBPB	chr22:27647964-27648814	A549	lung:	n/a	chr22:27648012-27648023 chr22:27648397-27648408 chr22:27648012-27648025 chr22:27648012-27648023
43	CEBPB	chr22:27640274-27640585	Hela-S3	cervix:	n/a	chr22:27640433-27640444
44	CEBPB	chr22:27640252-27640633	HepG2	liver:	n/a	chr22:27640433-27640444
45	CEBPB	chr22:27640261-27640602	K562	blood:	n/a	chr22:27640433-27640444
46	CEBPB	chr22:27648084-27648747	HCT-116	colon:	n/a	chr22:27648397-27648408
47	CEBPB	chr22:27648155-27648608	IMR90	lung:	n/a	chr22:27648397-27648408
48	CEBPB	chr22:27640261-27640607	H1-hESC	embryonic stem cell:	n/a	chr22:27640433-27640444
49	CEBPB	chr22:27634917-27635225	HepG2	liver:	n/a	chr22:27635055-27635066
50	CEBPB	chr22:27634885-27635644	A549	lung:	n/a	chr22:27635055-27635066

No.	Distal block	Cell Line	Cell type
1	chr22:27080739..27081273-chr22:27643780..27644377,2	MCF-7	breast:
2	chr22:27643488..27644356-chr22:27741077..27742051,5	MCF-7	breast:
3	chr22:27635416..27637152-chr22:27637431..27638931,2	MCF-7	breast:
4	chr22:27614255..27616554-chr22:27616988..27619608,2	MCF-7	breast:
5	chr22:27635416..27637152-chr22:27637431..27638931,2	MCF-7	breast:
6	chr22:27642081..27644926-chr22:27646639..27648991,2	MCF-7	breast:
7	chr22:27644670..27647222-chr22:27697658..27700615,2	MCF-7	breast:
8	chr22:27602742..27604550-chr22:27607695..27610449,2	MCF-7	breast:
9	chr22:27510448..27512552-chr22:27636972..27639243,2	MCF-7	breast:
10	chr22:27642081..27644926-chr22:27646639..27648991,2	MCF-7	breast:
11	chr22:27511685..27512306-chr22:27643793..27644432,2	MCF-7	breast:
12	chr22:27227083..27227596-chr22:27643510..27644439,2	MCF-7	breast:
13	chr22:27643403..27644410-chr22:27705456..27706322,3	MCF-7	breast:
14	chr22:27643488..27644264-chr22:27741346..27742051,2	MCF-7	breast:
15	chr22:27614255..27616554-chr22:27616988..27619608,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MN1-6	chr22:27618853-27618868	NONHSAT084579
2	lnc-MN1-6	chr22:27619259-27619595	NONHSAT084579
3	lnc-MN1-6	chr22:27620191-27620269	NONHSAT084579
4	lnc-CRYBA4-13	chr22:27609476-27609693	expReg_chr22_1575_+
5	lnc-MN1-6	chr22:27622490-27622760	NONHSAT084579

Variant related genes	Relation type
ENSG00000233521	TF binding region

Extended variants
information (count: 1640 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1640 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551334	chr22:27609597-27609598	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557979639	chr22:27609601-27609602	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566711695	chr22:27609607-27609608	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs115331810	chr22:27609619-27609620	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs187042283	chr22:27609670-27609671	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191490684	chr22:27609677-27609678	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs368944269	chr22:27609678-27609679	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs184498406	chr22:27609710-27609711	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs555636441	chr22:27609734-27609735	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs574713966	chr22:27609740-27609741	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs577206951	chr22:27609741-27609742	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs575287181	chr22:27609742-27609743	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs134167	chr22:27609784-27609785	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs397695997	chr22:27609785-27609786	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs75597525	chr22:27609786-27609787	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs545934665	chr22:27609793-27609794	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs564325811	chr22:27609795-27609796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs114276750	chr22:27609796-27609797	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377085093	chr22:27609797-27609798	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs540492398	chr22:27609804-27609805	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs495788	chr22:27609827-27609828	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76064745	chr22:27609828-27609829	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs190193806	chr22:27609846-27609847	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs568916245	chr22:27609849-27609850	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs533048282	chr22:27609856-27609857	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs554059	chr22:27609860-27609861	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144164658	chr22:27609866-27609867	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs542409529	chr22:27609903-27609904	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs555288692	chr22:27609921-27609922	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs182241795	chr22:27609924-27609925	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs185593266	chr22:27609945-27609946	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs5762030	chr22:27609965-27609966	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs369230060	chr22:27609991-27609992	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs545938483	chr22:27610034-27610035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs562901446	chr22:27610035-27610036	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs575271434	chr22:27610104-27610105	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs556733	chr22:27610165-27610166	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190265442	chr22:27610167-27610168	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs557802523	chr22:27610198-27610199	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs573274185	chr22:27610222-27610223	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs540784002	chr22:27610248-27610249	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs146481907	chr22:27610253-27610254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs141056910	chr22:27610316-27610317	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs180952483	chr22:27610360-27610361	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs144673572	chr22:27610373-27610374	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs185133416	chr22:27610379-27610380	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs551416258	chr22:27610404-27610405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs560157700	chr22:27610461-27610462	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs190442578	chr22:27610493-27610494	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs528026587	chr22:27610530-27610531	Enhancers Weak transcription Bivalent Enhancer	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:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27603000-27609600	Weak transcription	Aorta	Aorta
2	chr22:27605400-27610000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr22:27606400-27610200	Enhancers	Fetal Intestine Small	intestine
4	chr22:27606600-27610000	Weak transcription	Brain Germinal Matrix	brain
5	chr22:27606800-27620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:27607000-27611400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:27607200-27609600	Enhancers	Colon Smooth Muscle	Colon
8	chr22:27607200-27610400	Enhancers	Fetal Intestine Large	intestine
9	chr22:27607600-27610200	Enhancers	Rectal Smooth Muscle	rectum
10	chr22:27607600-27611400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:27608000-27610000	Enhancers	Placenta	Placenta
12	chr22:27608000-27611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:27608000-27611600	Enhancers	Osteobl	bone
14	chr22:27608000-27611800	Enhancers	Adipose Nuclei	Adipose
15	chr22:27608200-27609600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27608200-27609600	Enhancers	HSMM	muscle
17	chr22:27608200-27610000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr22:27608200-27610400	Enhancers	NH-A	brain
19	chr22:27608200-27611000	Enhancers	Fetal Muscle Leg	muscle
20	chr22:27608200-27611200	Enhancers	Spleen	Spleen
21	chr22:27608200-27611600	Enhancers	Ovary	ovary
22	chr22:27608200-27611800	Enhancers	Fetal Stomach	stomach
23	chr22:27608400-27609600	Enhancers	Duodenum Mucosa	Duodenum
24	chr22:27608600-27609600	Enhancers	Stomach Mucosa	stomach
25	chr22:27608600-27611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:27608600-27611200	Enhancers	Stomach Smooth Muscle	stomach
27	chr22:27608600-27612200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:27608800-27609600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr22:27608800-27609800	Enhancers	Left Ventricle	heart
30	chr22:27608800-27609800	Enhancers	Right Ventricle	heart
31	chr22:27608800-27610000	Enhancers	Right Atrium	heart
32	chr22:27608800-27610200	Bivalent Enhancer	Fetal Kidney	kidney
33	chr22:27608800-27611200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr22:27608800-27612800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:27609000-27610200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr22:27609000-27610400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:27609200-27609800	Enhancers	HUVEC	blood vessel
38	chr22:27609200-27610000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr22:27609200-27615800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:27609400-27610000	Weak transcription	Fetal Lung	lung
41	chr22:27609400-27611000	Enhancers	Lung	lung
42	chr22:27609400-27611200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:27609400-27613000	Weak transcription	A549	lung
44	chr22:27609600-27611000	Enhancers	Aorta	Aorta
45	chr22:27609600-27611000	Weak transcription	Colon Smooth Muscle	Colon
46	chr22:27609600-27611000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:27610000-27610800	Enhancers	Fetal Lung	lung
48	chr22:27610000-27611200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr22:27610000-27613400	Weak transcription	Right Atrium	heart
50	chr22:27610200-27610600	Weak transcription	Rectal Smooth Muscle	rectum

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