Variant report

Variant	nsv1023077
Chromosome Location	chr5:120373318-120417367
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	chr5:120388712-120389167	MCF-7	breast:	n/a	n/a
2	CEBPB	chr5:120386100-120386431	HepG2	liver:	n/a	chr5:120386256-120386267
3	CEBPB	chr5:120382637-120382812	A549	lung:	n/a	chr5:120382770-120382783
4	CEBPB	chr5:120407480-120407657	HepG2	liver:	n/a	chr5:120407589-120407602
5	CEBPB	chr5:120388756-120389126	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:120386141-120386392	A549	lung:	n/a	chr5:120386256-120386267
7	CEBPB	chr5:120409404-120409415	K562	blood:	n/a	n/a
8	CTCF	chr5:120398360-120398510	HVMF	connective:	n/a	n/a
9	CTCF	chr5:120396480-120396630	GM12875	blood:	n/a	n/a
10	CTCF	chr5:120386313-120386365	Lung_OC	lung:	n/a	n/a
11	CTCF	chr5:120389160-120389310	BE2_C	brain:	n/a	n/a
12	E2F4	chr5:120383252-120383370	MCF10A-Er-Src	breast:	n/a	n/a
13	ELK1	chr5:120390270-120390366	GM12878	blood:	n/a	n/a
14	EP300	chr5:120388733-120389180	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr5:120388067-120389799	SK-N-SH	brain:	n/a	chr5:120389215-120389229
16	EP300	chr5:120388676-120389373	SK-N-SH_RA	brain:	n/a	chr5:120389215-120389229
17	EP300	chr5:120385460-120386392	SK-N-SH	brain:	n/a	chr5:120385607-120385617
18	FOS	chr5:120382026-120382314	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:120381992-120382281	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:120382022-120382316	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:120381983-120382341	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:120381577-120381797	MCF10A-Er-Src	breast:	n/a	chr5:120381612-120381620 chr5:120381613-120381620
23	FOXA2	chr5:120400059-120400750	A549	lung:	n/a	n/a
24	FOXA2	chr5:120400276-120400594	A549	lung:	n/a	n/a
25	GATA2	chr5:120381475-120381869	HUVEC	blood vessel:	n/a	n/a
26	GATA2	chr5:120388198-120389497	SH-SY5Y	brain:	n/a	chr5:120388989-120388998
27	GATA2	chr5:120413066-120413595	SH-SY5Y	brain:	n/a	chr5:120413088-120413098 chr5:120413090-120413107 chr5:120413212-120413223
28	GATA2	chr5:120385766-120386138	SH-SY5Y	brain:	n/a	chr5:120386082-120386091
29	GATA3	chr5:120388609-120389313	SK-N-SH	brain:	n/a	chr5:120388989-120388998
30	GATA3	chr5:120409039-120409063	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr5:120388844-120389108	T-47D	breast:	n/a	chr5:120388989-120388998
32	GATA3	chr5:120413173-120413620	SH-SY5Y	brain:	n/a	chr5:120413575-120413596 chr5:120413212-120413223
33	GATA3	chr5:120381317-120381885	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr5:120385616-120386171	SH-SY5Y	brain:	n/a	chr5:120386082-120386091
35	GATA3	chr5:120388668-120389272	MCF-7	breast:	n/a	chr5:120388989-120388998
36	GATA3	chr5:120388561-120389390	SK-N-SH	brain:	n/a	chr5:120388989-120388998
37	GATA3	chr5:120388691-120389280	SH-SY5Y	brain:	n/a	chr5:120388989-120388998
38	GATA3	chr5:120381274-120381421	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr5:120381325-120381968	SK-N-SH	brain:	n/a	n/a
40	JUND	chr5:120382038-120382238	HepG2	liver:	n/a	chr5:120382156-120382167
41	KAP1	chr5:120411327-120411527	K562	blood:	n/a	n/a
42	MAFK	chr5:120374083-120374285	HepG2	liver:	n/a	chr5:120374165-120374180
43	MAFK	chr5:120382752-120382905	HepG2	liver:	n/a	n/a
44	MAFK	chr5:120374108-120374291	HepG2	liver:	n/a	chr5:120374165-120374180
45	MAX	chr5:120385808-120385920	NB4	blood:	n/a	chr5:120385891-120385901 chr5:120385890-120385900
46	MXI1	chr5:120385399-120386271	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr5:120381267-120381849	SK-N-SH	brain:	n/a	chr5:120381452-120381463
48	POLR2A	chr5:120394647-120394821	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr5:120390605-120390753	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:120388953-120389153	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:120400115-120400165	GM12878	blood:	n/a
2	chr5:120400115-120400165	SAEC	small airway:	n/a
3	chr5:120400115-120400165	HRCEpiC	kidney:	n/a
4	chr5:120400115-120400165	AG10803	skin:	n/a
5	chr5:120400115-120400165	HRE	kidney:	n/a
6	chr5:120400115-120400165	HIPEpiC	eye:	n/a
7	chr5:120400115-120400165	IMR90	lung:	fetal
8	chr5:120400115-120400165	PFSK-1	brain:	n/a
9	chr5:120400115-120400165	K562	blood:	n/a
10	chr5:120400115-120400165	HRPEpiC	eye:	n/a
11	chr5:120400115-120400165	NB4	blood:	n/a
12	chr5:120400115-120400165	SK-N-SH	brain:	n/a
13	chr5:120400115-120400165	A549	lung:	n/a
14	chr5:120400115-120400165	NT2-D1	testis:	n/a
15	chr5:120400115-120400165	SK-N-SH_RA	brain:	n/a
16	chr5:120400115-120400165	SKMC	muscle:	n/a
17	chr5:120400115-120400165	Hela-S3	cervix:	n/a
18	chr5:120400115-120400165	HUVEC	blood vessel:	n/a
19	chr5:120400115-120400165	BE2_C	brain:	n/a
20	chr5:120400115-120400165	PANC-1	pancreas:	n/a
21	chr5:120400115-120400165	Caco-2	colon:	n/a
22	chr5:120400115-120400165	AG09319	gingival:	n/a
23	chr5:120400115-120400165	PrEC	prostate:	n/a
24	chr5:120400115-120400165	AG04449	skin:	fetal
25	chr5:120400115-120400165	H1-hESC	embryonic stem cell:	embryo
26	chr5:120400115-120400165	GM12892	blood:	n/a
27	chr5:120400115-120400165	NHBE	bronchial:	n/a
28	chr5:120400115-120400165	HL-60	blood:	n/a
29	chr5:120400115-120400165	HepG2	liver:	n/a
30	chr5:120400115-120400165	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:120400115-120400165	HCM	heart:	n/a
32	chr5:120400115-120400165	Jurkat	blood:	n/a
33	chr5:120400115-120400165	ProgFib	skin:	n/a
34	chr5:120400115-120400165	GM06990	blood:	n/a
35	chr5:120400115-120400165	LNCaP	prostate:	n/a
36	chr5:120400115-120400165	GM12891	blood:	n/a
37	chr5:120400115-120400165	NHDF-neo	bronchial:	n/a
38	chr5:120400115-120400165	AG04450	lung:	fetal
39	chr5:120400115-120400165	AG09309	skin:	n/a
40	chr5:120400115-120400165	T-47D	breast:	n/a
41	chr5:120400115-120400165	HEK293	kidney:	embryo
42	chr5:120400115-120400165	Hepatocyte	liver:	n/a
43	chr5:120400115-120400165	AoSMC	blood vessel:	n/a
44	chr5:120400115-120400165	RPTEC	kidney:	n/a
45	chr5:120400115-120400165	GM19239	blood:	n/a
46	chr5:120400115-120400165	HCPEpiC	choroid plexus:	n/a
47	chr5:120400115-120400165	HEEpiC	esophagus:	n/a
48	chr5:120400115-120400165	HCF	heart:	n/a
49	chr5:120400115-120400165	HAEpiC	amniotic membrane:	n/a
50	chr5:120400115-120400165	CMK	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR16-2	chr5:120375785-120376277	NONHSAT103450
2	lnc-PRR16-2	chr5:120379384-120379727	NONHSAT103450
3	lnc-PRR16-3	chr5:120396085-120396648	NONHSAT103451
4	lnc-PRR16-3	chr5:120394939-120395040	NONHSAT103451
5	lnc-PRR16-2	chr5:120376385-120376432	NONHSAT103450

Variant related genes	Relation type
ENSG00000251135	TF binding region
ENSG00000248853	TF binding region
ENSG00000251135	CpG island
ENSG00000248853	CpG island

Extended variants
information (count: 864 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:864 , 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	rs189374388	chr5:120373715-120373716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535746412	chr5:120373738-120373739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547824644	chr5:120373745-120373746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376098712	chr5:120374084-120374085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185879251	chr5:120374111-120374112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs17147271	chr5:120374113-120374114	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561939860	chr5:120374118-120374119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs17506122	chr5:120374153-120374154	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547665169	chr5:120374189-120374190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566358084	chr5:120374191-120374192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527242061	chr5:120374200-120374201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs35453783	chr5:120374234-120374235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191412317	chr5:120374237-120374238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529508815	chr5:120374246-120374247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs78566733	chr5:120374288-120374289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540782559	chr5:120374314-120374315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147781839	chr5:120374316-120374317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568239016	chr5:120374321-120374322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs141107470	chr5:120374345-120374346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs1363534	chr5:120374384-120374385	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79772439	chr5:120374390-120374391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529720627	chr5:120374393-120374394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146964169	chr5:120374409-120374410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375139654	chr5:120374415-120374416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181564590	chr5:120374431-120374432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186340206	chr5:120374444-120374445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs137980871	chr5:120374483-120374484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569303412	chr5:120374492-120374493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561975681	chr5:120374496-120374497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs72787772	chr5:120374497-120374498	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541368673	chr5:120374515-120374516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553530450	chr5:120374516-120374517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191144295	chr5:120374536-120374537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs142237241	chr5:120375792-120375793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535141047	chr5:120375828-120375829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553156508	chr5:120375829-120375830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs533891251	chr5:120375840-120375841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs578130339	chr5:120375849-120375850	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs13157022	chr5:120375874-120375875	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532677252	chr5:120375881-120375882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs567438748	chr5:120375891-120375892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs147843959	chr5:120375928-120375929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs576048263	chr5:120375950-120375951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543330753	chr5:120375960-120375961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375362364	chr5:120375975-120375976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs191133331	chr5:120375994-120375995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs573531358	chr5:120376005-120376006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs541137909	chr5:120376043-120376044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs73787319	chr5:120376062-120376063	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533041555	chr5:120376065-120376066	Inactive region	lncRNA	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
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120379400-120380200	Enhancers	Dnd41	blood
2	chr5:120380200-120383800	Weak transcription	Dnd41	blood
3	chr5:120383800-120384200	Enhancers	Dnd41	blood
4	chr5:120384200-120385000	Weak transcription	Dnd41	blood
5	chr5:120385000-120386400	Enhancers	Dnd41	blood
6	chr5:120385200-120385600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:120385200-120385600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:120385600-120386000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:120386400-120386800	Weak transcription	Dnd41	blood
10	chr5:120386800-120388800	Enhancers	Dnd41	blood
11	chr5:120388200-120389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:120388400-120389400	Enhancers	Hela-S3	cervix
13	chr5:120388400-120389600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:120388800-120389600	Flanking Active TSS	Dnd41	blood
15	chr5:120389000-120389600	Enhancers	Fetal Kidney	kidney
16	chr5:120389600-120392200	Enhancers	Dnd41	blood
17	chr5:120399800-120400200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:120399800-120400400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:120399800-120400400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:120399800-120400400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:120400000-120400200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:120400000-120400400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:120400000-120400400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:120400000-120400400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:120400000-120400400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:120400000-120400400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:120413000-120414200	Enhancers	Dnd41	blood

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