Variant report

Variant	nsv882799
Chromosome Location	chr5:120565523-120649241
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	ATF1	chr5:120609797-120610099	K562	blood:	n/a	n/a
2	ATF3	chr5:120587704-120588047	A549	lung:	n/a	n/a
3	ATF3	chr5:120609660-120610180	A549	lung:	n/a	n/a
4	ATF3	chr5:120609671-120610135	A549	lung:	n/a	n/a
5	BACH1	chr5:120609897-120610216	K562	blood:	n/a	n/a
6	BCL3	chr5:120609611-120610175	A549	lung:	n/a	n/a
7	BCL3	chr5:120587530-120588099	A549	lung:	n/a	n/a
8	BCL3	chr5:120609574-120610233	A549	lung:	n/a	n/a
9	BHLHE40	chr5:120582702-120582968	HepG2	liver:	n/a	n/a
10	BRCA1	chr5:120576292-120576344	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr5:120609626-120610276	HCT-116	colon:	n/a	n/a
12	CBX3	chr5:120587730-120588017	HCT-116	colon:	n/a	n/a
13	CEBPB	chr5:120640581-120640912	Hela-S3	cervix:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
14	CEBPB	chr5:120587647-120588158	A549	lung:	n/a	n/a
15	CEBPB	chr5:120602594-120602886	K562	blood:	n/a	chr5:120602751-120602762
16	CEBPB	chr5:120602603-120602824	HepG2	liver:	n/a	chr5:120602751-120602762
17	CEBPB	chr5:120628443-120628634	K562	blood:	n/a	chr5:120628524-120628535
18	CEBPB	chr5:120640581-120640914	A549	lung:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
19	CEBPB	chr5:120640568-120640898	H1-hESC	embryonic stem cell:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
20	CEBPB	chr5:120640491-120640969	A549	lung:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
21	CEBPB	chr5:120640558-120640915	IMR90	lung:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
22	CEBPB	chr5:120609455-120610277	A549	lung:	n/a	chr5:120609623-120609636
23	CEBPB	chr5:120640550-120640906	HepG2	liver:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
24	CEBPB	chr5:120615541-120615802	K562	blood:	n/a	n/a
25	CEBPB	chr5:120609529-120610117	A549	lung:	n/a	chr5:120609623-120609636
26	CEBPB	chr5:120640541-120640899	K562	blood:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
27	CEBPB	chr5:120587696-120588057	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:120587635-120588242	HCT-116	colon:	n/a	n/a
29	CEBPB	chr5:120640581-120640927	A549	lung:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
30	CEBPB	chr5:120587688-120588575	A549	lung:	n/a	n/a
31	CEBPB	chr5:120587556-120588192	A549	lung:	n/a	n/a
32	CEBPB	chr5:120609521-120610150	IMR90	lung:	n/a	chr5:120609623-120609636
33	CEBPB	chr5:120602604-120602822	A549	lung:	n/a	chr5:120602751-120602762
34	CEBPB	chr5:120609534-120610174	Hela-S3	cervix:	n/a	chr5:120609623-120609636
35	CEBPB	chr5:120615503-120615753	K562	blood:	n/a	n/a
36	CEBPB	chr5:120640554-120640918	ECC-1	luminal epithelium:	n/a	chr5:120640725-120640734 chr5:120640725-120640734 chr5:120640723-120640736 chr5:120640723-120640736 chr5:120640720-120640737 chr5:120640723-120640734 chr5:120640793-120640806 chr5:120640725-120640734
37	CEBPB	chr5:120602581-120602901	IMR90	lung:	n/a	chr5:120602751-120602762
38	CEBPB	chr5:120587649-120588101	HCT-116	colon:	n/a	n/a
39	CEBPD	chr5:120615370-120615697	K562	blood:	n/a	n/a
40	CHD2	chr5:120609726-120610137	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr5:120618420-120618570	GM12866	blood:	n/a	n/a
42	CTCF	chr5:120606859-120606877	Lung_OC	lung:	n/a	n/a
43	CTCF	chr5:120584373-120584407	GM10248	blood:	n/a	n/a
44	CTCF	chr5:120584335-120584393	GM19239	blood:	n/a	n/a
45	CTCF	chr5:120584667-120584738	Lung_OC	lung:	n/a	n/a
46	CTCF	chr5:120572705-120572800	GM10266	blood:	n/a	n/a
47	CTCF	chr5:120607255-120607286	Fibrobl	skin:	n/a	n/a
48	E2F4	chr5:120648717-120649023	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr5:120587526-120588148	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr5:120613710-120613833	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:120597959..120600237-chr5:120894989..120897698,2	K562	blood:
2	chr5:120628569..120631260-chr5:120631938..120634860,2	MCF-7	breast:
3	chr5:120621053..120623969-chr5:120627723..120630035,2	MCF-7	breast:
4	chr5:120643239..120645271-chr5:120645522..120647194,2	K562	blood:
5	chr5:120604790..120607005-chr5:120607199..120609992,2	K562	blood:
6	chr5:120643239..120645271-chr5:120645522..120647194,2	K562	blood:
7	chr5:120628569..120631260-chr5:120631938..120634860,2	MCF-7	breast:
8	chr5:120631738..120633506-chr5:120633517..120635841,2	K562	blood:
9	chr5:120604790..120607005-chr5:120607199..120609992,2	K562	blood:
10	chr5:120621053..120623969-chr5:120627723..120630035,2	MCF-7	breast:
11	chr5:120631738..120633506-chr5:120633517..120635841,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTMT-2	chr5:120621476-120621568	ENSG00000229855.4

Variant related genes	Relation type
ENSG00000229855	TF binding region

Extended variants
information (count: 1890 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1890 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112034239	chr5:120580818-120580819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146381477	chr5:120580825-120580826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563844612	chr5:120580841-120580842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139752470	chr5:120580852-120580853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17449200	chr5:120580857-120580858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192092648	chr5:120580869-120580870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372743920	chr5:120580901-120580902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568376850	chr5:120580909-120580910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144219439	chr5:120580910-120580911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116304451	chr5:120580924-120580925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576221793	chr5:120580953-120580954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561548372	chr5:120580997-120580998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543230187	chr5:120581014-120581015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528618428	chr5:120581037-120581038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547883637	chr5:120581053-120581054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561518581	chr5:120581090-120581091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183267245	chr5:120581091-120581092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540889263	chr5:120581097-120581098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187539924	chr5:120581099-120581100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2406422	chr5:120581128-120581129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551877184	chr5:120581145-120581146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151032656	chr5:120581152-120581153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116299340	chr5:120581158-120581159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377509511	chr5:120581180-120581181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192196866	chr5:120581229-120581230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184228098	chr5:120581254-120581255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535346096	chr5:120581257-120581258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543942262	chr5:120581280-120581281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375941467	chr5:120581287-120581288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386691783	chr5:120581297-120581298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187152928	chr5:120581298-120581299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1366280	chr5:120581299-120581300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532815686	chr5:120581301-120581302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199769462	chr5:120581314-120581315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192874089	chr5:120581315-120581316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559856885	chr5:120581316-120581317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553234845	chr5:120581320-120581321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557701504	chr5:120581321-120581322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527995739	chr5:120581364-120581365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528787466	chr5:120581370-120581371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140999203	chr5:120581372-120581373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543068767	chr5:120581380-120581381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111856593	chr5:120581383-120581384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78381475	chr5:120581392-120581393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184540999	chr5:120581424-120581425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540977134	chr5:120581436-120581437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3049173	chr5:120581445-120581446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574748328	chr5:120581446-120581447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559366853	chr5:120581458-120581459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397999117	chr5:120581469-120581470	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120580800-120581200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:120580800-120581400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:120580800-120584200	Enhancers	Dnd41	blood
4	chr5:120582800-120583000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:120582800-120583000	Enhancers	Pancreas	Pancrea
6	chr5:120586000-120587400	Weak transcription	A549	lung
7	chr5:120586800-120588800	Enhancers	HUVEC	blood vessel
8	chr5:120587400-120587600	Enhancers	A549	lung
9	chr5:120587400-120587800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:120587600-120588000	Active TSS	A549	lung
11	chr5:120587600-120588400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:120587800-120588200	Enhancers	Osteobl	bone
13	chr5:120587800-120588400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:120588000-120588400	Flanking Active TSS	A549	lung
15	chr5:120588200-120588800	Enhancers	HMEC	breast
16	chr5:120588400-120589000	Enhancers	A549	lung
17	chr5:120588800-120593400	Weak transcription	HUVEC	blood vessel
18	chr5:120593000-120594000	Enhancers	Dnd41	blood
19	chr5:120593200-120593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:120593400-120593800	Enhancers	HUVEC	blood vessel
21	chr5:120598600-120598800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:120598600-120598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:120598800-120599400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:120599000-120599200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:120600600-120600800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:120600600-120601400	Enhancers	A549	lung
27	chr5:120600600-120602000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:120600800-120609600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:120601400-120609200	Weak transcription	A549	lung
30	chr5:120609200-120609600	Enhancers	A549	lung
31	chr5:120609200-120609800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:120609400-120609600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:120609400-120609600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:120609400-120609600	Enhancers	NHDF-Ad	bronchial
35	chr5:120609400-120609800	Enhancers	Osteobl	bone
36	chr5:120609600-120609800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:120609600-120610000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:120609600-120610000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:120609600-120610000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:120609600-120610000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:120609600-120610000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr5:120609600-120610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:120609600-120610200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:120609600-120610200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:120609600-120610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:120609600-120610200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr5:120609600-120610200	Flanking Active TSS	A549	lung
48	chr5:120609600-120610200	Enhancers	Dnd41	blood
49	chr5:120609600-120610200	Enhancers	K562	blood
50	chr5:120609600-120610200	Enhancers	NHLF	lung

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