Variant report

Variant	nsv1018526
Chromosome Location	chr5:120610202-120649241
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	BACH1	chr5:120609897-120610216	K562	blood:	n/a	n/a
2	BCL3	chr5:120609574-120610233	A549	lung:	n/a	n/a
3	CBX3	chr5:120609626-120610276	HCT-116	colon:	n/a	n/a
4	CEBPB	chr5:120609455-120610277	A549	lung:	n/a	chr5:120609623-120609636
5	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
6	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
7	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
8	CEBPB	chr5:120615541-120615802	K562	blood:	n/a	n/a
9	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
10	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
11	CEBPB	chr5:120615503-120615753	K562	blood:	n/a	n/a
12	CEBPB	chr5:120628443-120628634	K562	blood:	n/a	chr5:120628524-120628535
13	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
14	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
15	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
16	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
17	CEBPD	chr5:120615370-120615697	K562	blood:	n/a	n/a
18	CTCF	chr5:120618420-120618570	GM12866	blood:	n/a	n/a
19	E2F4	chr5:120609819-120610215	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr5:120648717-120649023	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr5:120642910-120643161	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr5:120613710-120613833	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr5:120621396-120621661	GM12878	blood:	n/a	n/a
24	EP300	chr5:120609465-120610409	A549	lung:	n/a	n/a
25	EP300	chr5:120609429-120610371	A549	lung:	n/a	n/a
26	FOS	chr5:120609513-120610293	MCF10A-Er-Src	breast:	n/a	chr5:120609939-120609950
27	FOS	chr5:120621678-120621835	MCF10A-Er-Src	breast:	n/a	chr5:120621784-120621792
28	FOS	chr5:120609505-120610257	MCF10A-Er-Src	breast:	n/a	chr5:120609939-120609950
29	FOS	chr5:120609486-120610231	HUVEC	blood vessel:	n/a	chr5:120609939-120609950
30	FOS	chr5:120621742-120621896	MCF10A-Er-Src	breast:	n/a	chr5:120621784-120621792
31	FOSL1	chr5:120609607-120610303	HCT-116	colon:	n/a	n/a
32	FOSL1	chr5:120609478-120610241	HCT-116	colon:	n/a	n/a
33	FOSL2	chr5:120609694-120610286	SK-N-SH	brain:	n/a	chr5:120609938-120609949
34	FOSL2	chr5:120609650-120610311	SK-N-SH	brain:	n/a	chr5:120609938-120609949
35	FOSL2	chr5:120609403-120610415	A549	lung:	n/a	chr5:120609938-120609949
36	FOSL2	chr5:120609507-120610250	A549	lung:	n/a	chr5:120609938-120609949
37	FOXA2	chr5:120609639-120610249	A549	lung:	n/a	n/a
38	GATA1	chr5:120620713-120621369	PBDEFetal	blood:	n/a	chr5:120620917-120620934 chr5:120620912-120620928 chr5:120620916-120620923 chr5:120620909-120620930 chr5:120620916-120620923 chr5:120620916-120620923
39	GATA2	chr5:120615436-120615759	K562	blood:	n/a	n/a
40	GATA3	chr5:120627503-120627703	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr5:120609644-120610263	A549	lung:	n/a	chr5:120610227-120610244
42	GATA3	chr5:120622769-120623247	MCF-7	breast:	n/a	n/a
43	GATA3	chr5:120625120-120625753	MCF-7	breast:	n/a	chr5:120625409-120625417
44	GATA3	chr5:120609528-120610426	A549	lung:	n/a	chr5:120610227-120610244
45	GATA3	chr5:120624960-120626137	MCF-7	breast:	n/a	chr5:120625409-120625417
46	GATA3	chr5:120625219-120626219	MCF-7	breast:	n/a	chr5:120625409-120625417
47	IRF3	chr5:120645593-120645617	GM12878	blood:	n/a	n/a
48	JUND	chr5:120609630-120610317	HCT-116	colon:	n/a	chr5:120609939-120609950
49	JUND	chr5:120645285-120645574	HepG2	liver:	n/a	chr5:120645411-120645420
50	JUND	chr5:120609609-120610314	HCT-116	colon:	n/a	chr5:120609939-120609950

No.	Distal block	Cell Line	Cell type
1	chr5:120631738..120633506-chr5:120633517..120635841,2	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	chr5:120631738..120633506-chr5:120633517..120635841,2	K562	blood:
5	chr5:120628569..120631260-chr5:120631938..120634860,2	MCF-7	breast:
6	chr5:120621053..120623969-chr5:120627723..120630035,2	MCF-7	breast:
7	chr5:120643239..120645271-chr5:120645522..120647194,2	K562	blood:
8	chr5:120643239..120645271-chr5:120645522..120647194,2	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: 950 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529226442	chr5:120610214-120610215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547382144	chr5:120610220-120610221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565918114	chr5:120610242-120610243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4895173	chr5:120610243-120610244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558147719	chr5:120610253-120610254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562948380	chr5:120610276-120610277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4895174	chr5:120610282-120610283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537541887	chr5:120610290-120610291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556038963	chr5:120610365-120610366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574163314	chr5:120610370-120610371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11448170	chr5:120610372-120610373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397751457	chr5:120610373-120610374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111942999	chr5:120610374-120610375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112340159	chr5:120610375-120610376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541567933	chr5:120610380-120610381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552335128	chr5:120610405-120610406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116415276	chr5:120610425-120610426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578170794	chr5:120610438-120610439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545429522	chr5:120610451-120610452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184506788	chr5:120610453-120610454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531352321	chr5:120610502-120610503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560189395	chr5:120610535-120610536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189501411	chr5:120610567-120610568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527712114	chr5:120610576-120610577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368461043	chr5:120610622-120610623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572410500	chr5:120610635-120610636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561404648	chr5:120610679-120610680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6595289	chr5:120610692-120610693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547539880	chr5:120610702-120610703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148495779	chr5:120610729-120610730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6882160	chr5:120610744-120610745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180693834	chr5:120610746-120610747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533237677	chr5:120610773-120610774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551849202	chr5:120610790-120610791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185784950	chr5:120610793-120610794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376692602	chr5:120610801-120610802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537402959	chr5:120610837-120610838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549504658	chr5:120610860-120610861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112381443	chr5:120610890-120610891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368929686	chr5:120610979-120610980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560930873	chr5:120610989-120610990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189342498	chr5:120611007-120611008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567721963	chr5:120611056-120611057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142875482	chr5:120611057-120611058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553517075	chr5:120611079-120611080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578208137	chr5:120611100-120611101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538943825	chr5:120611217-120611218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557371027	chr5:120611288-120611289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575640117	chr5:120611321-120611322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542964691	chr5:120611329-120611330	Weak transcription	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120609600-120610400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120609600-120610400	Enhancers	Hela-S3	cervix
3	chr5:120609600-120610400	Enhancers	HMEC	breast
4	chr5:120609600-120610400	Enhancers	NH-A	brain
5	chr5:120609600-120610600	Enhancers	HUVEC	blood vessel
6	chr5:120610000-120610400	Enhancers	NHDF-Ad	bronchial
7	chr5:120610200-120610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:120610200-120610400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:120610200-120610400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:120610200-120610400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:120610200-120610400	Enhancers	Osteobl	bone
12	chr5:120610200-120613000	Weak transcription	Dnd41	blood
13	chr5:120613000-120614400	Enhancers	Dnd41	blood
14	chr5:120621000-120621400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:120621000-120631200	Enhancers	Dnd41	blood
16	chr5:120621200-120621400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:120621200-120622400	Enhancers	Adipose Nuclei	Adipose
18	chr5:120621200-120622800	Enhancers	NHDF-Ad	bronchial
19	chr5:120621400-120621600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:120621400-120621600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:120621400-120621600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:120621600-120622000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:120621600-120622000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:120621600-120622200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:120621800-120622000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:120622000-120622200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:120622000-120622200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:120622000-120622400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:120622200-120622400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:120622200-120622800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:120622200-120622800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:120627400-120627800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:120627800-120628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:120628000-120629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:120628200-120630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:120628400-120629600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:120629600-120632000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:120629600-120632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:120630000-120632000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:120631200-120631600	Weak transcription	Dnd41	blood
41	chr5:120631600-120634800	Enhancers	Dnd41	blood
42	chr5:120632000-120632400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:120632000-120633000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:120632200-120632800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:120632400-120633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:120634800-120635400	Flanking Active TSS	Dnd41	blood
47	chr5:120635400-120638000	Enhancers	Dnd41	blood
48	chr5:120649200-120652200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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