Variant report

Variant	nsv1016013
Chromosome Location	chr5:120050484-120077190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:120065915-120066207	A549	lung:	n/a	chr5:120066061-120066072
2	CEBPB	chr5:120065904-120066245	IMR90	lung:	n/a	chr5:120066061-120066072
3	CEBPB	chr5:120054977-120055190	A549	lung:	n/a	chr5:120055099-120055108 chr5:120055097-120055108 chr5:120055099-120055110
4	CEBPB	chr5:120054932-120055285	IMR90	lung:	n/a	chr5:120055099-120055108 chr5:120055097-120055108 chr5:120055099-120055110
5	CEBPB	chr5:120052477-120052610	K562	blood:	n/a	n/a
6	CEBPB	chr5:120052476-120052658	A549	lung:	n/a	n/a
7	CEBPB	chr5:120065886-120066248	HepG2	liver:	n/a	chr5:120066061-120066072
8	CEBPB	chr5:120065902-120066254	K562	blood:	n/a	chr5:120066061-120066072
9	CEBPB	chr5:120054965-120055296	HepG2	liver:	n/a	chr5:120055099-120055108 chr5:120055097-120055108 chr5:120055099-120055110
10	CEBPB	chr5:120066038-120066233	H1-hESC	embryonic stem cell:	n/a	chr5:120066061-120066072
11	CTCF	chr5:120072640-120072790	HPF	lung:	n/a	n/a
12	CTCF	chr5:120070960-120071110	AG10803	skin:	n/a	n/a
13	CTCF	chr5:120070900-120071050	AG04449	skin:	n/a	n/a
14	CTCF	chr5:120070777-120071106	K562	blood:	n/a	n/a
15	CTCF	chr5:120070820-120070970	HVMF	connective:	n/a	n/a
16	CTCF	chr5:120070960-120071110	HCT-116	colon:	n/a	n/a
17	CTCF	chr5:120070900-120071050	Caco-2	colon:	n/a	n/a
18	CTCF	chr5:120070860-120071010	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr5:120070933-120071047	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:120070880-120071030	HMF	breast:	n/a	n/a
21	CTCF	chr5:120052469-120052487	GM13976	blood:	n/a	n/a
22	CTCF	chr5:120070860-120071010	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr5:120070905-120071040	LNCaP	prostate:	n/a	n/a
24	CTCF	chr5:120070880-120071030	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr5:120070900-120071050	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr5:120070897-120071068	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr5:120070900-120071050	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr5:120070920-120071070	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr5:120071020-120071170	HFF	foreskin:	n/a	n/a
30	CTCF	chr5:120070920-120071070	HPF	lung:	n/a	n/a
31	CTCF	chr5:120070800-120070950	BE2_C	brain:	n/a	n/a
32	CTCF	chr5:120070980-120071130	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr5:120070860-120071010	AG09319	gingival:	n/a	n/a
34	CTCF	chr5:120070960-120071110	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr5:120070920-120071070	AG10803	skin:	n/a	n/a
36	CTCF	chr5:120070900-120071050	AG04450	lung:	n/a	n/a
37	CTCF	chr5:120070921-120071058	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:120070880-120071030	HMEC	breast:	n/a	n/a
39	CTCF	chr5:120052469-120052524	GM20000	blood:	n/a	n/a
40	CTCF	chr5:120070927-120071044	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:120070922-120071062	Gliobla	brain:	n/a	n/a
42	CTCF	chr5:120070900-120071050	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr5:120070980-120071130	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr5:120070978-120071000	HepG2	liver:	n/a	n/a
45	CTCF	chr5:120070920-120071070	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:120070960-120071110	HEK293	kidney:	n/a	n/a
47	CTCF	chr5:120070920-120071027	LNCaP	prostate:	n/a	n/a
48	CTCF	chr5:120070780-120070930	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr5:120070900-120071050	BE2_C	brain:	n/a	n/a
50	CTCF	chr5:120070900-120071050	WERI-Rb-1	eye:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:120069936-120069986	HRPEpiC	eye:	n/a
2	chr5:120069936-120069986	NHBE	bronchial:	n/a
3	chr5:120069936-120069986	HepG2	liver:	n/a
4	chr5:120069936-120069986	BE2_C	brain:	n/a
5	chr5:120069936-120069986	IMR90	lung:	fetal
6	chr5:120069936-120069986	HCF	heart:	n/a
7	chr5:120069936-120069986	PrEC	prostate:	n/a
8	chr5:120069936-120069986	PFSK-1	brain:	n/a
9	chr5:120069936-120069986	AG10803	skin:	n/a
10	chr5:120069936-120069986	ProgFib	skin:	n/a
11	chr5:120069936-120069986	MCF10A-Er-Src	breast:	n/a
12	chr5:120069936-120069986	HEK293	kidney:	embryo
13	chr5:120069936-120069986	PANC-1	pancreas:	n/a
14	chr5:120069936-120069986	NH-A	brain:	n/a
15	chr5:120069936-120069986	K562	blood:	n/a
16	chr5:120069936-120069986	GM12891	blood:	n/a
17	chr5:120069936-120069986	NT2-D1	testis:	n/a
18	chr5:120069936-120069986	SK-N-SH_RA	brain:	n/a
19	chr5:120069936-120069986	HMEC	breast:	n/a
20	chr5:120069936-120069986	Hepatocyte	liver:	n/a
21	chr5:120069936-120069986	RPTEC	kidney:	n/a
22	chr5:120069936-120069986	SK-N-MC	brain:	n/a
23	chr5:120069936-120069986	Jurkat	blood:	n/a
24	chr5:120069936-120069986	AG09309	skin:	n/a
25	chr5:120069936-120069986	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:120069936-120069986	HUVEC	blood vessel:	n/a
27	chr5:120069936-120069986	SK-N-SH	brain:	n/a
28	chr5:120069936-120069986	GM06990	blood:	n/a
29	chr5:120069936-120069986	HIPEpiC	eye:	n/a
30	chr5:120069936-120069986	CMK	blood:	n/a
31	chr5:120069936-120069986	HAEpiC	amniotic membrane:	n/a
32	chr5:120069936-120069986	HCPEpiC	choroid plexus:	n/a
33	chr5:120069936-120069986	BJ	skin:	n/a
34	chr5:120069936-120069986	HRCEpiC	kidney:	n/a
35	chr5:120069936-120069986	Hela-S3	cervix:	n/a
36	chr5:120069936-120069986	T-47D	breast:	n/a
37	chr5:120069936-120069986	HCM	heart:	n/a
38	chr5:120069936-120069986	AG09319	gingival:	n/a
39	chr5:120069936-120069986	ECC-1	luminal epithelium:	n/a
40	chr5:120069936-120069986	HL-60	blood:	n/a
41	chr5:120069936-120069986	AG04449	skin:	fetal
42	chr5:120069936-120069986	H1-hESC	embryonic stem cell:	embryo
43	chr5:120069936-120069986	Caco-2	colon:	n/a
44	chr5:120069936-120069986	MCF-7	breast:	n/a
45	chr5:120069936-120069986	HNPCEpiC	eye:	n/a
46	chr5:120069936-120069986	HRE	kidney:	n/a
47	chr5:120069936-120069986	SKMC	muscle:	n/a
48	chr5:120069936-120069986	NHDF-neo	bronchial:	n/a
49	chr5:120069936-120069986	AG04450	lung:	fetal
50	chr5:120069936-120069986	HCT-116	colon:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120076937..120079853-chr5:120080038..120082536,3	K562	blood:
2	chr5:120072445..120075135-chr5:120093078..120094683,2	K562	blood:

No data

Variant related genes	Relation type
RNU4-69P	TF binding region
RNU4-69P	CpG island

Extended variants
information (count: 745 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535970230	chr5:120050496-120050497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547983565	chr5:120050501-120050502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142427501	chr5:120050533-120050534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4333347	chr5:120050609-120050610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558163120	chr5:120050622-120050623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578082090	chr5:120050649-120050650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537426897	chr5:120050652-120050653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183063902	chr5:120050660-120050661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540324328	chr5:120050673-120050674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541525245	chr5:120050688-120050689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559872249	chr5:120050702-120050703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187350689	chr5:120050711-120050712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367854750	chr5:120050747-120050748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372065193	chr5:120050760-120050761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564205940	chr5:120050819-120050820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6881123	chr5:120050826-120050827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539822867	chr5:120050831-120050832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550165148	chr5:120050856-120050857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562087141	chr5:120050862-120050863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529360688	chr5:120050878-120050879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547901390	chr5:120050888-120050889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139684928	chr5:120050914-120050915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539623993	chr5:120050939-120050940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551983931	chr5:120050981-120050982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10040406	chr5:120050982-120050983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192794384	chr5:120050986-120050987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17502651	chr5:120051055-120051056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555691084	chr5:120051067-120051068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76670652	chr5:120051139-120051140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144450683	chr5:120051153-120051154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535121408	chr5:120051174-120051175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145353812	chr5:120051227-120051228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372883855	chr5:120051230-120051231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572137306	chr5:120051237-120051238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562799029	chr5:120051286-120051287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375418279	chr5:120051376-120051377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369066526	chr5:120051405-120051406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545665927	chr5:120051430-120051431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564322258	chr5:120051480-120051481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372400374	chr5:120051697-120051698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566851051	chr5:120051740-120051741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576229918	chr5:120051763-120051764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4629623	chr5:120051769-120051770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs184840923	chr5:120051787-120051788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529300599	chr5:120051836-120051837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573915502	chr5:120051847-120051848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541463440	chr5:120051848-120051849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187704564	chr5:120051850-120051851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149628753	chr5:120051863-120051864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1449156	chr5:120051879-120051880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120045800-120061600	Weak transcription	HSMM	muscle
2	chr5:120051400-120051600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:120051600-120053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:120060800-120063200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:120061000-120061200	Enhancers	Aorta	Aorta
6	chr5:120061000-120062400	Enhancers	Brain Germinal Matrix	brain
7	chr5:120061200-120067000	Weak transcription	Aorta	Aorta
8	chr5:120061600-120062200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:120061600-120062600	Enhancers	HSMM	muscle
10	chr5:120061800-120062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:120061800-120062400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:120064800-120065000	Enhancers	HSMM	muscle
13	chr5:120069600-120070200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:120069600-120070200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:120069600-120070200	Enhancers	HSMMtube	muscle
16	chr5:120069600-120070800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:120069600-120071000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:120069600-120071000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:120069600-120071000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:120069800-120070200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:120069800-120070200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:120070400-120071000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:120071800-120072200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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