Variant report

Variant	nsv968966
Chromosome Location	chr5:97745646-97751814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:97746502-97746660	GM12878	blood:	n/a	n/a
2	BCL11A	chr5:97746518-97746652	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:97746451-97746723	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:97746497-97746672	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:97749852-97751208	IMR90	lung:	n/a	chr5:97750380-97750391
6	CEBPB	chr5:97750006-97750503	HepG2	liver:	n/a	chr5:97750380-97750391
7	EP300	chr5:97750407-97751250	SK-N-SH	brain:	n/a	n/a
8	EP300	chr5:97750465-97751168	SK-N-SH	brain:	n/a	n/a
9	FOS	chr5:97750655-97751350	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr5:97750627-97751267	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:97750679-97751378	MCF10A-Er-Src	breast:	n/a	n/a
12	FOSL2	chr5:97746467-97746666	HepG2	liver:	n/a	n/a
13	FOSL2	chr5:97746453-97746777	HepG2	liver:	n/a	n/a
14	FOSL2	chr5:97750668-97751095	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr5:97750448-97751209	SK-N-SH	brain:	n/a	n/a
16	GABPA	chr5:97746534-97746630	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr5:97750356-97751211	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr5:97750383-97751245	SK-N-SH	brain:	n/a	n/a
19	HEY1	chr5:97746499-97746638	HepG2	liver:	n/a	n/a
20	HEY1	chr5:97746495-97746674	HepG2	liver:	n/a	n/a
21	JUN	chr5:97748905-97749132	HepG2	liver:	n/a	n/a
22	JUND	chr5:97746513-97746650	HepG2	liver:	n/a	n/a
23	JUND	chr5:97748787-97749137	HepG2	liver:	n/a	n/a
24	JUND	chr5:97746535-97746633	HepG2	liver:	n/a	n/a
25	JUND	chr5:97750516-97751164	SK-N-SH	brain:	n/a	n/a
26	MAFK	chr5:97750524-97751271	IMR90	lung:	n/a	n/a
27	MYC	chr5:97750872-97751059	MCF10A-Er-Src	breast:	n/a	n/a
28	NFIC	chr5:97750401-97751200	SK-N-SH	brain:	n/a	n/a
29	PAX5	chr5:97746515-97746646	GM12878	blood:	n/a	n/a
30	PBX3	chr5:97750481-97751540	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr5:97750510-97751434	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr5:97746531-97746638	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:97750595-97751026	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr5:97751676-97751704	ProgFib	skin:	n/a	n/a
35	POLR2A	chr5:97751102-97751129	ProgFib	skin:	n/a	n/a
36	POLR2A	chr5:97750586-97751234	U87	brain:	n/a	n/a
37	POLR2A	chr5:97751468-97751667	ProgFib	skin:	n/a	n/a
38	POLR2A	chr5:97750809-97750813	ProgFib	skin:	n/a	n/a
39	POLR2A	chr5:97750977-97751101	ProgFib	skin:	n/a	n/a
40	POLR2A	chr5:97750573-97751315	U87	brain:	n/a	n/a
41	POLR2A	chr5:97749588-97752027	IMR90	lung:	n/a	n/a
42	POLR2A	chr5:97750861-97750888	ProgFib	skin:	n/a	n/a
43	POLR2A	chr5:97750567-97751315	U87	brain:	n/a	n/a
44	POLR2A	chr5:97746521-97746648	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:97749426-97749528	ProgFib	skin:	n/a	n/a
46	POLR2A	chr5:97751065-97751078	MCF10A-Er-Src	breast:	n/a	n/a
47	POU2F2	chr5:97746536-97746636	GM12878	blood:	n/a	n/a
48	RAD21	chr5:97750529-97751418	IMR90	lung:	n/a	n/a
49	RXRA	chr5:97746475-97746694	GM12878	blood:	n/a	n/a
50	RXRA	chr5:97750393-97751132	SK-N-SH	brain:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:97746735-97746785	T-47D	breast:	n/a
2	chr5:97746735-97746785	T-47D	breast:	n/a
3	chr5:97745972-97746022	HRCEpiC	kidney:	n/a
4	chr5:97746735-97746785	GM12892	blood:	n/a
5	chr5:97745972-97746022	HRE	kidney:	n/a
6	chr5:97745972-97746022	Hela-S3	cervix:	n/a
7	chr5:97746735-97746785	HRE	kidney:	n/a
8	chr5:97746735-97746785	HIPEpiC	eye:	n/a
9	chr5:97745972-97746022	NHDF-neo	bronchial:	n/a
10	chr5:97746735-97746785	NH-A	brain:	n/a
11	chr5:97745972-97746022	AoSMC	blood vessel:	n/a
12	chr5:97746735-97746785	ECC-1	luminal epithelium:	n/a
13	chr5:97745972-97746022	T-47D	breast:	n/a
14	chr5:97746735-97746785	H1-hESC	embryonic stem cell:	embryo
15	chr5:97745972-97746022	BJ	skin:	n/a
16	chr5:97745972-97746022	HepG2	liver:	n/a
17	chr5:97746735-97746785	SKMC	muscle:	n/a
18	chr5:97745972-97746022	AG04450	lung:	fetal
19	chr5:97746735-97746785	GM06990	blood:	n/a
20	chr5:97745972-97746022	HNPCEpiC	eye:	n/a
21	chr5:97745972-97746022	MCF10A-Er-Src	breast:	n/a
22	chr5:97746735-97746785	AG10803	skin:	n/a
23	chr5:97746735-97746785	HCPEpiC	choroid plexus:	n/a
24	chr5:97746735-97746785	HNPCEpiC	eye:	n/a
25	chr5:97745972-97746022	BE2_C	brain:	n/a
26	chr5:97745972-97746022	ECC-1	luminal epithelium:	n/a
27	chr5:97745972-97746022	AG09309	skin:	n/a
28	chr5:97746735-97746785	GM19239	blood:	n/a
29	chr5:97745972-97746022	HCM	heart:	n/a
30	chr5:97745972-97746022	ovcar-3	ovarian:	n/a
31	chr5:97745972-97746022	HEEpiC	esophagus:	n/a
32	chr5:97746735-97746785	CMK	blood:	n/a
33	chr5:97745972-97746022	Hepatocyte	liver:	n/a
34	chr5:97746735-97746785	MCF-7	breast:	n/a
35	chr5:97745972-97746022	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:97745972-97746022	MCF-7	breast:	n/a
37	chr5:97745972-97746022	HCF	heart:	n/a
38	chr5:97746735-97746785	SK-N-MC	brain:	n/a
39	chr5:97746735-97746785	NB4	blood:	n/a
40	chr5:97745972-97746022	GM12892	blood:	n/a
41	chr5:97745972-97746022	AG10803	skin:	n/a
42	chr5:97746735-97746785	GM12891	blood:	n/a
43	chr5:97746735-97746785	AG04449	skin:	fetal
44	chr5:97746735-97746785	HL-60	blood:	n/a
45	chr5:97745972-97746022	HRPEpiC	eye:	n/a
46	chr5:97745972-97746022	H1-hESC	embryonic stem cell:	embryo
47	chr5:97745972-97746022	NH-A	brain:	n/a
48	chr5:97746735-97746785	Caco-2	colon:	n/a
49	chr5:97746735-97746785	HCM	heart:	n/a
50	chr5:97746735-97746785	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000249448	TF binding region
ENSG00000249990	TF binding region
ENSG00000249448	CpG island
ENSG00000249990	CpG island

Extended variants
information (count: 203 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75199606	chr5:97745658-97745659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531386244	chr5:97745723-97745724	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191836726	chr5:97745729-97745730	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139146669	chr5:97745850-97745851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571268941	chr5:97745895-97745896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371209214	chr5:97745922-97745923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72769674	chr5:97745950-97745951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550660005	chr5:97745966-97745967	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568824715	chr5:97745972-97745973	Strong transcription Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs536872827	chr5:97746000-97746001	Strong transcription Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs186891112	chr5:97746054-97746055	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566705286	chr5:97746076-97746077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10054663	chr5:97746121-97746122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558820629	chr5:97746127-97746128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572341404	chr5:97746136-97746137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541243855	chr5:97746138-97746139	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114272665	chr5:97746187-97746188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200966279	chr5:97746220-97746221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189826191	chr5:97746232-97746233	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556643763	chr5:97746261-97746262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574867687	chr5:97746263-97746264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578052242	chr5:97746304-97746305	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542327872	chr5:97746329-97746330	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182815678	chr5:97746340-97746341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187015887	chr5:97746386-97746387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145251031	chr5:97746463-97746464	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs193156470	chr5:97746465-97746466	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532148742	chr5:97746538-97746539	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550278138	chr5:97746558-97746559	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563742735	chr5:97746561-97746562	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185055472	chr5:97746594-97746595	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529771339	chr5:97746595-97746596	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547869312	chr5:97746623-97746624	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566768580	chr5:97746624-97746625	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534087179	chr5:97746647-97746648	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs558840425	chr5:97746656-97746657	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189120301	chr5:97746700-97746701	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369150950	chr5:97746704-97746705	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150635585	chr5:97746705-97746706	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs111790870	chr5:97746709-97746710	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184623088	chr5:97746715-97746716	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs115696663	chr5:97746736-97746737	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs148730849	chr5:97746744-97746745	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs543143872	chr5:97746826-97746827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372038617	chr5:97746829-97746830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144638608	chr5:97746886-97746887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573082373	chr5:97746964-97746965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7727877	chr5:97747044-97747045	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7713002	chr5:97747054-97747055	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147867390	chr5:97747163-97747164	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97744200-97755200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97744400-97749600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:97746000-97749800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:97748400-97754200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:97748600-97748800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:97748600-97754400	Enhancers	NHDF-Ad	bronchial
7	chr5:97748800-97752000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:97748800-97753200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:97748800-97753200	Enhancers	HSMM	muscle
10	chr5:97749200-97752800	Enhancers	HSMMtube	muscle
11	chr5:97749200-97752800	Enhancers	NHLF	lung
12	chr5:97749200-97753000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:97749200-97753400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:97749600-97752000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:97749600-97752000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:97749600-97753200	Enhancers	Osteobl	bone
17	chr5:97749800-97751200	Enhancers	NHEK	skin
18	chr5:97749800-97752200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:97749800-97752800	Enhancers	NH-A	brain
20	chr5:97749800-97753400	Enhancers	HMEC	breast
21	chr5:97750000-97753200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:97750400-97753400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:97751200-97751600	Flanking Active TSS	NHEK	skin
24	chr5:97751600-97753400	Enhancers	NHEK	skin

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