Variant report

Variant	nsv462432
Chromosome Location	chr5:120931849-120992301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:62)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:120992127-120992130	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:120964568-120964931	H1-hESC	embryonic stem cell:	n/a	chr5:120964658-120964669
3	CEBPB	chr5:120943154-120943354	HepG2	liver:	n/a	chr5:120943250-120943261
4	CEBPB	chr5:120964549-120964732	K562	blood:	n/a	chr5:120964658-120964669
5	CEBPB	chr5:120964485-120964948	Hela-S3	cervix:	n/a	chr5:120964658-120964669
6	CEBPB	chr5:120964481-120964818	K562	blood:	n/a	chr5:120964658-120964669
7	CEBPB	chr5:120964509-120964898	A549	lung:	n/a	chr5:120964658-120964669
8	CEBPB	chr5:120943249-120943280	K562	blood:	n/a	chr5:120943250-120943261
9	CEBPB	chr5:120943177-120943331	IMR90	lung:	n/a	chr5:120943250-120943261
10	CEBPB	chr5:120964486-120965003	HepG2	liver:	n/a	chr5:120964658-120964669
11	CEBPB	chr5:120964527-120964910	MCF-7	breast:	n/a	chr5:120964658-120964669
12	CEBPB	chr5:120964500-120964914	K562	blood:	n/a	chr5:120964658-120964669
13	CEBPB	chr5:120964504-120965017	A549	lung:	n/a	chr5:120964658-120964669
14	CEBPB	chr5:120935701-120935939	IMR90	lung:	n/a	n/a
15	CTCF	chr5:120966208-120966331	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr5:120966200-120966350	HPF	lung:	n/a	n/a
17	CTCF	chr5:120966240-120966390	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr5:120966200-120966350	BJ	skin:	n/a	n/a
19	CTCF	chr5:120966119-120966428	T-47D	breast:	n/a	n/a
20	CTCF	chr5:120966200-120966350	HMF	breast:	n/a	n/a
21	CTCF	chr5:120966154-120966371	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:120966161-120966372	HepG2	liver:	n/a	n/a
23	CTCF	chr5:120966166-120966376	LNCaP	prostate:	n/a	n/a
24	CTCF	chr5:120966200-120966350	Caco-2	colon:	n/a	n/a
25	CTCF	chr5:120966160-120966310	A549	lung:	n/a	n/a
26	CTCF	chr5:120966160-120966310	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:120966302-120966305	GM13977	blood:	n/a	n/a
28	CTCF	chr5:120966140-120966290	AG04449	skin:	n/a	n/a
29	CTCF	chr5:120966160-120966310	HRE	kidney:	n/a	n/a
30	CTCF	chr5:120938857-120938922	LNCaP	prostate:	n/a	n/a
31	CTCF	chr5:120966160-120966310	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr5:120966240-120966390	HVMF	connective:	n/a	n/a
33	CTCF	chr5:120966180-120966330	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr5:120966140-120966290	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr5:120966180-120966330	HPF	lung:	n/a	n/a
36	CTCF	chr5:120966220-120966370	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr5:120966120-120966270	HCM	heart:	n/a	n/a
38	CTCF	chr5:120966182-120966359	NHEK	skin:	n/a	n/a
39	CTCF	chr5:120966160-120966310	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr5:120938864-120938883	GM13977	blood:	n/a	n/a
41	CTCF	chr5:120966300-120966450	NHLF	lung:	n/a	n/a
42	CTCF	chr5:120966144-120966392	LNCaP	prostate:	n/a	n/a
43	CTCF	chr5:120966160-120966310	NHEK	skin:	n/a	n/a
44	CTCF	chr5:120981685-120981721	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr5:120966220-120966370	HepG2	liver:	n/a	n/a
46	CTCF	chr5:120972073-120972118	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:120966180-120966330	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr5:120966243-120966301	GM13977	blood:	n/a	n/a
49	CTCF	chr5:120966180-120966330	HepG2	liver:	n/a	n/a
50	CTCF	chr5:120972300-120972450	BE2_C	brain:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:120953129-120953179	HCM	heart:	n/a
2	chr5:120953129-120953179	HCM	heart:	n/a
3	chr5:120953129-120953179	K562	blood:	n/a
4	chr5:120953129-120953179	HCPEpiC	choroid plexus:	n/a
5	chr5:120953129-120953179	HIPEpiC	eye:	n/a
6	chr5:120953129-120953179	NB4	blood:	n/a
7	chr5:120953129-120953179	NHDF-neo	bronchial:	n/a
8	chr5:120953129-120953179	SKMC	muscle:	n/a
9	chr5:120953129-120953179	AG10803	skin:	n/a
10	chr5:120953129-120953179	AG09309	skin:	n/a
11	chr5:120953129-120953179	SK-N-SH	brain:	n/a
12	chr5:120953129-120953179	HEEpiC	esophagus:	n/a
13	chr5:120953129-120953179	GM12878	blood:	n/a
14	chr5:120953129-120953179	HRCEpiC	kidney:	n/a
15	chr5:120953129-120953179	U87	brain:	n/a
16	chr5:120953129-120953179	MCF-7	breast:	n/a
17	chr5:120953129-120953179	HAEpiC	amniotic membrane:	n/a
18	chr5:120953129-120953179	AoSMC	blood vessel:	n/a
19	chr5:120953129-120953179	PrEC	prostate:	n/a
20	chr5:120953129-120953179	HUVEC	blood vessel:	n/a
21	chr5:120953129-120953179	SK-N-MC	brain:	n/a
22	chr5:120953129-120953179	CMK	blood:	n/a
23	chr5:120953129-120953179	BJ	skin:	n/a
24	chr5:120953129-120953179	Caco-2	colon:	n/a
25	chr5:120953129-120953179	BE2_C	brain:	n/a
26	chr5:120953129-120953179	MCF10A-Er-Src	breast:	n/a
27	chr5:120953129-120953179	HepG2	liver:	n/a
28	chr5:120953129-120953179	AG09319	gingival:	n/a
29	chr5:120953129-120953179	GM12891	blood:	n/a
30	chr5:120953129-120953179	NHBE	bronchial:	n/a
31	chr5:120953129-120953179	GM06990	blood:	n/a
32	chr5:120953129-120953179	HCF	heart:	n/a
33	chr5:120953129-120953179	HNPCEpiC	eye:	n/a
34	chr5:120953129-120953179	SK-N-SH_RA	brain:	n/a
35	chr5:120953129-120953179	NH-A	brain:	n/a
36	chr5:120953129-120953179	A549	lung:	n/a
37	chr5:120953129-120953179	AG04449	skin:	fetal
38	chr5:120953129-120953179	HL-60	blood:	n/a
39	chr5:120953129-120953179	PANC-1	pancreas:	n/a
40	chr5:120953129-120953179	NT2-D1	testis:	n/a
41	chr5:120953129-120953179	PFSK-1	brain:	n/a
42	chr5:120953129-120953179	GM12892	blood:	n/a
43	chr5:120953129-120953179	RPTEC	kidney:	n/a
44	chr5:120953129-120953179	HEK293	kidney:	embryo
45	chr5:120953129-120953179	HRE	kidney:	n/a
46	chr5:120953129-120953179	HMEC	breast:	n/a
47	chr5:120953129-120953179	Hela-S3	cervix:	n/a
48	chr5:120953129-120953179	HCT-116	colon:	n/a
49	chr5:120953129-120953179	ECC-1	luminal epithelium:	n/a
50	chr5:120953129-120953179	HRPEpiC	eye:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:120965691..120966274-chr5:121206074..121206765,2	MCF-7	breast:
2	chr5:120928236..120930477-chr5:120934461..120936328,2	K562	blood:
3	chr5:120953693..120956473-chr5:120986186..120988872,2	K562	blood:
4	chr5:120972976..120975022-chr5:120976329..120977904,2	K562	blood:
5	chr5:120966119..120966759-chr5:121285387..121286002,2	MCF-7	breast:
6	chr5:120972976..120975022-chr5:120976329..120977904,2	K562	blood:
7	chr5:120953693..120956473-chr5:120986186..120988872,2	K562	blood:
8	chr5:120966174..120966865-chr5:121226297..121226810,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213661	TF binding region
ENSG00000213661	CpG island

Extended variants
information (count: 816 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367673449	chr5:120946971-120946972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142939368	chr5:120946975-120946976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147419651	chr5:120946982-120946983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531449910	chr5:120947335-120947336	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143388628	chr5:120947366-120947367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553639438	chr5:120947390-120947391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556673278	chr5:120950745-120950746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574871865	chr5:120950750-120950751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371879387	chr5:120950757-120950758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10043544	chr5:120950772-120950773	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376540991	chr5:120950789-120950790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs570788188	chr5:120951123-120951124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs146359450	chr5:120951130-120951131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547065995	chr5:120951149-120951150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139773804	chr5:120951150-120951151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188242215	chr5:120951185-120951186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs535944488	chr5:120951231-120951232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554282425	chr5:120951244-120951245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192680282	chr5:120951270-120951271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs562095880	chr5:120951411-120951412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6889792	chr5:120951488-120951489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563185968	chr5:120951492-120951493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557653376	chr5:120951518-120951519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149126868	chr5:120951558-120951559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541550810	chr5:120951589-120951590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76664073	chr5:120951590-120951591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527258671	chr5:120951598-120951599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533032779	chr5:120951604-120951605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77171303	chr5:120951613-120951614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531587342	chr5:120951636-120951637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10793804	chr5:120951646-120951647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561542335	chr5:120951651-120951652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568150261	chr5:120951695-120951696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535683923	chr5:120951698-120951699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10793805	chr5:120951703-120951704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565870906	chr5:120951723-120951724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539559927	chr5:120951735-120951736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190221764	chr5:120951750-120951751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576032416	chr5:120951755-120951756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182040239	chr5:120951759-120951760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556066902	chr5:120951761-120951762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369978735	chr5:120951787-120951788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6890291	chr5:120951788-120951789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541641991	chr5:120951820-120951821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79652970	chr5:120951821-120951822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371501922	chr5:120951827-120951828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532961816	chr5:120951890-120951891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs559978859	chr5:120951898-120951899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547919660	chr5:120951923-120951924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545938093	chr5:120951936-120951937	Weak transcription	TF binding region	1 gene(s)	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
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120951400-120953800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:120964400-120964800	Enhancers	Dnd41	blood
3	chr5:120964600-120964800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:120964600-120964800	Enhancers	Psoas Muscle	Psoas
5	chr5:120964600-120964800	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr5:120964600-120965000	Enhancers	Adipose Nuclei	Adipose
7	chr5:120964800-120965000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:120964800-120965000	Enhancers	Right Atrium	heart
9	chr5:120964800-120965000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:120964800-120965200	Enhancers	Fetal Heart	heart
11	chr5:120964800-120965400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:120964800-120976000	Weak transcription	Psoas Muscle	Psoas
13	chr5:120965000-120966200	Weak transcription	Adipose Nuclei	Adipose
14	chr5:120965000-120966400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:120965000-120966600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:120965400-120966600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:120966000-120966800	Enhancers	Fetal Brain Female	brain
18	chr5:120966400-120966600	Enhancers	Adipose Nuclei	Adipose
19	chr5:120966400-120966800	Enhancers	Fetal Stomach	stomach
20	chr5:120966400-120967400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:120966600-120966800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:120967200-120968000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:120969400-120969600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:120975800-120976000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:120975800-120976200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:120976000-120976800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:120976200-120976400	Enhancers	Psoas Muscle	Psoas
28	chr5:120976200-120976600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:120976200-120976600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr5:120985800-120987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:120986200-120987600	Enhancers	Dnd41	blood
32	chr5:120991800-120992600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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