Variant report

Variant	nsv823140
Chromosome Location	chr5:93904623-93905770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:93904917-93905390	GM12878	blood:	n/a	n/a
2	BATF	chr5:93904840-93904991	GM12878	blood:	n/a	n/a
3	BATF	chr5:93905010-93905392	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:93904555-93905402	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:93904917-93905385	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:93904828-93905314	HepG2	liver:	n/a	n/a
7	BHLHE40	chr5:93904575-93904821	HepG2	liver:	n/a	n/a
8	BRCA1	chr5:93905504-93905513	GM12878	blood:	n/a	n/a
9	CEBPD	chr5:93904908-93905441	K562	blood:	n/a	n/a
10	CTCF	chr5:93904987-93905298	K562	blood:	n/a	n/a
11	EBF1	chr5:93905016-93905385	GM12878	blood:	n/a	n/a
12	EBF1	chr5:93905008-93905392	GM12878	blood:	n/a	n/a
13	EP300	chr5:93905018-93905322	GM12878	blood:	n/a	n/a
14	EP300	chr5:93904818-93905448	GM12878	blood:	n/a	n/a
15	FOSL2	chr5:93904551-93905333	HepG2	liver:	n/a	n/a
16	FOSL2	chr5:93905004-93905417	HepG2	liver:	n/a	n/a
17	FOXA1	chr5:93904812-93905328	HepG2	liver:	n/a	n/a
18	FOXM1	chr5:93904784-93905522	GM12878	blood:	n/a	n/a
19	FOXP2	chr5:93905027-93905276	SK-N-MC	brain:	n/a	n/a
20	FOXP2	chr5:93905030-93905274	PFSK-1	brain:	n/a	n/a
21	GABPA	chr5:93905031-93905255	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr5:93905010-93905311	Hela-S3	cervix:	n/a	n/a
23	GATA2	chr5:93904916-93905425	K562	blood:	n/a	n/a
24	HEY1	chr5:93904854-93904970	HepG2	liver:	n/a	n/a
25	HEY1	chr5:93905027-93905275	HepG2	liver:	n/a	n/a
26	HEY1	chr5:93904565-93904823	HepG2	liver:	n/a	n/a
27	HEY1	chr5:93904923-93905288	K562	blood:	n/a	n/a
28	HEY1	chr5:93904826-93905426	HepG2	liver:	n/a	n/a
29	IRF4	chr5:93904810-93905420	GM12878	blood:	n/a	n/a
30	IRF4	chr5:93904804-93905505	GM12878	blood:	n/a	n/a
31	JUND	chr5:93904866-93904966	HepG2	liver:	n/a	n/a
32	JUND	chr5:93905011-93905287	HepG2	liver:	n/a	n/a
33	JUND	chr5:93905036-93905270	HepG2	liver:	n/a	n/a
34	MYBL2	chr5:93904800-93905346	HepG2	liver:	n/a	n/a
35	NFIC	chr5:93904862-93905508	GM12878	blood:	n/a	n/a
36	PAX5	chr5:93905020-93905335	GM12878	blood:	n/a	n/a
37	PAX5	chr5:93904543-93905744	GM12878	blood:	n/a	n/a
38	PAX5	chr5:93904916-93905413	GM12878	blood:	n/a	n/a
39	PAX5	chr5:93905012-93905315	GM12878	blood:	n/a	n/a
40	PBX3	chr5:93904826-93904970	GM12878	blood:	n/a	n/a
41	PBX3	chr5:93905024-93905338	GM12878	blood:	n/a	n/a
42	PBX3	chr5:93905029-93905257	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:93905016-93905298	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:93904885-93905323	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr5:93905031-93905281	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr5:93905018-93905271	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:93905001-93905392	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:93905027-93905289	SK-N-MC	brain:	n/a	n/a
49	POU2F2	chr5:93904554-93905475	GM12878	blood:	n/a	chr5:93904667-93904678
50	POU2F2	chr5:93904984-93905314	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93905257-93905307	HRPEpiC	eye:	n/a
2	chr5:93905257-93905307	AG09309	skin:	n/a
3	chr5:93905482-93905532	HRCEpiC	kidney:	n/a
4	chr5:93905427-93905477	T-47D	breast:	n/a
5	chr5:93905257-93905307	NHDF-neo	bronchial:	n/a
6	chr5:93905257-93905307	K562	blood:	n/a
7	chr5:93905358-93905408	PANC-1	pancreas:	n/a
8	chr5:93905482-93905532	Hepatocyte	liver:	n/a
9	chr5:93905482-93905532	AG09309	skin:	n/a
10	chr5:93905427-93905477	HRPEpiC	eye:	n/a
11	chr5:93905343-93905393	HRPEpiC	eye:	n/a
12	chr5:93905270-93905320	A549	lung:	n/a
13	chr5:93905427-93905477	HUVEC	blood vessel:	n/a
14	chr5:93905257-93905307	Hepatocyte	liver:	n/a
15	chr5:93905358-93905408	SK-N-SH	brain:	n/a
16	chr5:93905482-93905532	HEEpiC	esophagus:	n/a
17	chr5:93905482-93905532	GM19239	blood:	n/a
18	chr5:93905482-93905532	CMK	blood:	n/a
19	chr5:93905270-93905320	Jurkat	blood:	n/a
20	chr5:93905257-93905307	T-47D	breast:	n/a
21	chr5:93905482-93905532	HCPEpiC	choroid plexus:	n/a
22	chr5:93905358-93905408	ovcar-3	ovarian:	n/a
23	chr5:93905257-93905307	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:93905427-93905477	HCPEpiC	choroid plexus:	n/a
25	chr5:93905270-93905320	NB4	blood:	n/a
26	chr5:93905343-93905393	BE2_C	brain:	n/a
27	chr5:93905358-93905408	HCM	heart:	n/a
28	chr5:93905270-93905320	PrEC	prostate:	n/a
29	chr5:93905427-93905477	AG04449	skin:	fetal
30	chr5:93905427-93905477	GM19239	blood:	n/a
31	chr5:93905270-93905320	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:93905358-93905408	AG04450	lung:	fetal
33	chr5:93905358-93905408	LNCaP	prostate:	n/a
34	chr5:93905343-93905393	HUVEC	blood vessel:	n/a
35	chr5:93905427-93905477	HCF	heart:	n/a
36	chr5:93905482-93905532	MCF10A-Er-Src	breast:	n/a
37	chr5:93905270-93905320	AG04449	skin:	fetal
38	chr5:93905343-93905393	SK-N-SH	brain:	n/a
39	chr5:93905482-93905532	GM06990	blood:	n/a
40	chr5:93905482-93905532	IMR90	lung:	fetal
41	chr5:93905482-93905532	SKMC	muscle:	n/a
42	chr5:93905270-93905320	RPTEC	kidney:	n/a
43	chr5:93905257-93905307	GM12891	blood:	n/a
44	chr5:93905358-93905408	PrEC	prostate:	n/a
45	chr5:93905427-93905477	AG09319	gingival:	n/a
46	chr5:93905427-93905477	MCF-7	breast:	n/a
47	chr5:93905427-93905477	Caco-2	colon:	n/a
48	chr5:93905257-93905307	SKMC	muscle:	n/a
49	chr5:93905343-93905393	AG09319	gingival:	n/a
50	chr5:93905257-93905307	GM12892	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCTP1-2	chr5:93904634-93905175	NONHSAT102821

No data

Variant related genes	Relation type
MTND6P3	TF binding region
ENSG00000251340	TF binding region
MTND6P3	CpG island
ENSG00000251340	CpG island

Extended variants
information (count: 90 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62365666	chr5:93904626-93904627	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540951367	chr5:93904647-93904648	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs78432187	chr5:93904649-93904650	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs78625140	chr5:93904652-93904653	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs571584946	chr5:93904657-93904658	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs78441904	chr5:93904662-93904663	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs188742801	chr5:93904675-93904676	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs80321709	chr5:93904694-93904695	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs76923788	chr5:93904712-93904713	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs77147952	chr5:93904715-93904716	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs147765966	chr5:93904728-93904729	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs553869216	chr5:93904731-93904732	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs567659106	chr5:93904732-93904733	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs79794597	chr5:93904733-93904734	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs536300769	chr5:93904741-93904742	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs118089323	chr5:93904765-93904766	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs75397668	chr5:93904772-93904773	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs79500841	chr5:93904802-93904803	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs76905032	chr5:93904820-93904821	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs141176915	chr5:93904821-93904822	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs79267887	chr5:93904823-93904824	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs116500437	chr5:93904842-93904843	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs57415386	chr5:93904849-93904850	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs75555833	chr5:93904915-93904916	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs193212148	chr5:93904918-93904919	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs183046000	chr5:93904942-93904943	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs73132656	chr5:93904955-93904956	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560682881	chr5:93904964-93904965	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs200492726	chr5:93904969-93904970	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs559942342	chr5:93905001-93905002	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs552644120	chr5:93905023-93905024	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs77634124	chr5:93905067-93905068	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs187417291	chr5:93905076-93905077	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs76292023	chr5:93905079-93905080	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs80239035	chr5:93905085-93905086	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs55876730	chr5:93905091-93905092	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs563062998	chr5:93905135-93905136	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs77081020	chr5:93905140-93905141	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs77775930	chr5:93905148-93905149	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs74453871	chr5:93905153-93905154	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs532102115	chr5:93905154-93905155	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs78391601	chr5:93905157-93905158	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs191835553	chr5:93905161-93905162	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs77169140	chr5:93905167-93905168	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs367897832	chr5:93905195-93905196	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs571848036	chr5:93905204-93905205	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs75923737	chr5:93905243-93905244	Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs74972526	chr5:93905255-93905256	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184094323	chr5:93905257-93905258	Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs189559517	chr5:93905270-93905271	Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93904200-93908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:93905400-93906000	ZNF genes & repeats	Aorta	Aorta

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