Variant report

Variant	nsv882800
Chromosome Location	chr5:120622200-120653398
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	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
2	CEBPB	chr5:120650781-120651061	Hela-S3	cervix:	n/a	n/a
3	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
4	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
5	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
6	CEBPB	chr5:120628443-120628634	K562	blood:	n/a	chr5:120628524-120628535
7	CEBPB	chr5:120650749-120651103	K562	blood:	n/a	n/a
8	CEBPB	chr5:120650883-120651016	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr5:120650738-120651104	HepG2	liver:	n/a	n/a
10	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
11	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
12	CEBPB	chr5:120650738-120651081	IMR90	lung:	n/a	n/a
13	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
14	CEBPB	chr5:120650741-120651097	A549	lung:	n/a	n/a
15	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
16	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
17	E2F4	chr5:120648717-120649023	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr5:120642910-120643161	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:120651541-120651833	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:120651551-120651833	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:120651613-120651839	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:120651441-120651918	HUVEC	blood vessel:	n/a	n/a
23	GATA1	chr5:120651192-120651984	PBDE	blood:	n/a	n/a
24	GATA2	chr5:120651176-120651935	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr5:120622769-120623247	MCF-7	breast:	n/a	n/a
26	GATA3	chr5:120624960-120626137	MCF-7	breast:	n/a	chr5:120625409-120625417
27	GATA3	chr5:120627503-120627703	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr5:120625120-120625753	MCF-7	breast:	n/a	chr5:120625409-120625417
29	GATA3	chr5:120625219-120626219	MCF-7	breast:	n/a	chr5:120625409-120625417
30	IRF1	chr5:120650386-120650461	K562	blood:	n/a	n/a
31	IRF3	chr5:120645593-120645617	GM12878	blood:	n/a	n/a
32	JUND	chr5:120645285-120645574	HepG2	liver:	n/a	chr5:120645411-120645420
33	JUND	chr5:120649459-120649589	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr5:120645361-120645579	HepG2	liver:	n/a	chr5:120645496-120645516 chr5:120645495-120645506 chr5:120645495-120645506 chr5:120645498-120645514
35	MAFK	chr5:120630970-120631145	HepG2	liver:	n/a	n/a
36	MAX	chr5:120628413-120628668	NB4	blood:	n/a	n/a
37	MYC	chr5:120628346-120628652	NB4	blood:	n/a	n/a
38	MYC	chr5:120653063-120653303	MCF-7	breast:	n/a	n/a
39	MYC	chr5:120653065-120653272	MCF-7	breast:	n/a	n/a
40	MYC	chr5:120626602-120626801	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr5:120651551-120651588	HUVEC	blood vessel:	n/a	n/a
42	MYC	chr5:120653130-120653158	MCF-7	breast:	n/a	n/a
43	NFYA	chr5:120647857-120647967	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:120653031-120653365	MCF-7	breast:	n/a	n/a
45	POLR2A	chr5:120632416-120632444	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr5:120624533-120624826	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr5:120640260-120640303	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr5:120653036-120653359	MCF-7	breast:	n/a	n/a
49	POLR2A	chr5:120653027-120653277	Gliobla	brain:	n/a	n/a
50	POLR2A	chr5:120634282-120634377	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:120621053..120623969-chr5:120627723..120630035,2	MCF-7	breast:
2	chr5:120643239..120645271-chr5:120645522..120647194,2	K562	blood:
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	chr5:120643239..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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTMT-2	chr5:120649656-120649899	ENSG00000229855.4
2	lnc-FTMT-2	chr5:120649672-120649899	ENSG00000229855.4

Variant related genes	Relation type
ENSG00000229855	TF binding region

Extended variants
information (count: 894 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529941646	chr5:120622200-120622201	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371648351	chr5:120622224-120622225	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559638212	chr5:120622268-120622269	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577983375	chr5:120622273-120622274	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1895244	chr5:120622366-120622367	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34600606	chr5:120622370-120622371	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545059783	chr5:120622397-120622398	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35090973	chr5:120622418-120622419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200465639	chr5:120622424-120622425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530906919	chr5:120622448-120622449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183559685	chr5:120622463-120622464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1363391	chr5:120622470-120622471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2098635	chr5:120622478-120622479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542535446	chr5:120622483-120622484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368344332	chr5:120622511-120622512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190834639	chr5:120622523-120622524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34206176	chr5:120622562-120622563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563810307	chr5:120622578-120622579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370080945	chr5:120622583-120622584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138421920	chr5:120622595-120622596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571572364	chr5:120622618-120622619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539450784	chr5:120622678-120622679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182072617	chr5:120622689-120622690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569777915	chr5:120622694-120622695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536736644	chr5:120622753-120622754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555461548	chr5:120622764-120622765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573883875	chr5:120622771-120622772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141873199	chr5:120622822-120622823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553338756	chr5:120622825-120622826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571009749	chr5:120622837-120622838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577839736	chr5:120622864-120622865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545433002	chr5:120622866-120622867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563525388	chr5:120622905-120622906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368080778	chr5:120622918-120622919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542719111	chr5:120622921-120622922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150567716	chr5:120622937-120622938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528674325	chr5:120622939-120622940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139543715	chr5:120622955-120622956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528604903	chr5:120622979-120622980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565598268	chr5:120623030-120623031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532689383	chr5:120623045-120623046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115522148	chr5:120623050-120623051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569558441	chr5:120623063-120623064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78284845	chr5:120623066-120623067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187226787	chr5:120623068-120623069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568470301	chr5:120623069-120623070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567354884	chr5:120623105-120623106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75501625	chr5:120623113-120623114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375367566	chr5:120623129-120623130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200560537	chr5:120623134-120623135	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120621000-120631200	Enhancers	Dnd41	blood
2	chr5:120621200-120622400	Enhancers	Adipose Nuclei	Adipose
3	chr5:120621200-120622800	Enhancers	NHDF-Ad	bronchial
4	chr5:120621600-120622200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:120622000-120622200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:120622000-120622200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:120622000-120622400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:120622200-120622400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:120622200-120622800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:120622200-120622800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:120627400-120627800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:120627800-120628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:120628000-120629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:120628200-120630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:120628400-120629600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:120629600-120632000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:120629600-120632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:120630000-120632000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:120631200-120631600	Weak transcription	Dnd41	blood
20	chr5:120631600-120634800	Enhancers	Dnd41	blood
21	chr5:120632000-120632400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:120632000-120633000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:120632200-120632800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:120632400-120633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:120634800-120635400	Flanking Active TSS	Dnd41	blood
26	chr5:120635400-120638000	Enhancers	Dnd41	blood
27	chr5:120649200-120652200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:120649600-120651800	Enhancers	Dnd41	blood
29	chr5:120651000-120652200	Enhancers	Hela-S3	cervix
30	chr5:120651800-120654200	Weak transcription	Dnd41	blood
31	chr5:120652200-120653000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:120652800-120653000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:120653000-120653200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:120653000-120653200	ZNF genes & repeats	Esophagus	oesophagus
35	chr5:120653000-120653200	ZNF genes & repeats	Gastric	stomach
36	chr5:120653000-120653400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:120653200-120654400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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