Variant report

Variant	nsv462340
Chromosome Location	chr5:104086307-104105121
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	BATF	chr5:104087774-104088008	GM12878	blood:	n/a	chr5:104087867-104087878
2	BATF	chr5:104087746-104087944	GM12878	blood:	n/a	chr5:104087867-104087878
3	CEBPB	chr5:104090393-104090670	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:104102501-104102787	A549	lung:	n/a	chr5:104102656-104102667
5	CEBPB	chr5:104102566-104102783	HepG2	liver:	n/a	chr5:104102656-104102667
6	CTCF	chr5:104088500-104088650	Caco-2	colon:	n/a	n/a
7	CTCF	chr5:104102206-104102345	Medullo	brain:	n/a	n/a
8	E2F4	chr5:104101042-104101511	MCF10A-Er-Src	breast:	n/a	chr5:104101361-104101378 chr5:104101364-104101375 chr5:104101361-104101378
9	FOXA1	chr5:104100468-104100734	T-47D	breast:	n/a	chr5:104100592-104100607
10	GATA3	chr5:104088128-104088328	SH-SY5Y	brain:	n/a	n/a
11	JUND	chr5:104090281-104090675	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFF	chr5:104093745-104093962	K562	blood:	n/a	chr5:104093809-104093827 chr5:104093808-104093822
13	MAFF	chr5:104093725-104093976	HepG2	liver:	n/a	chr5:104093809-104093827 chr5:104093808-104093822
14	MAFK	chr5:104093664-104093995	HepG2	liver:	n/a	chr5:104093810-104093825 chr5:104093814-104093825 chr5:104093815-104093826 chr5:104093813-104093827 chr5:104093807-104093823 chr5:104093805-104093825 chr5:104093812-104093821 chr5:104093810-104093826 chr5:104093815-104093826 chr5:104093811-104093821 chr5:104093808-104093822 chr5:104093814-104093825
15	MAFK	chr5:104093718-104093979	IMR90	lung:	n/a	chr5:104093810-104093825 chr5:104093814-104093825 chr5:104093815-104093826 chr5:104093813-104093827 chr5:104093807-104093823 chr5:104093805-104093825 chr5:104093812-104093821 chr5:104093810-104093826 chr5:104093815-104093826 chr5:104093811-104093821 chr5:104093808-104093822 chr5:104093814-104093825
16	MAFK	chr5:104093695-104093963	HepG2	liver:	n/a	chr5:104093810-104093825 chr5:104093814-104093825 chr5:104093815-104093826 chr5:104093813-104093827 chr5:104093807-104093823 chr5:104093805-104093825 chr5:104093812-104093821 chr5:104093810-104093826 chr5:104093815-104093826 chr5:104093811-104093821 chr5:104093808-104093822 chr5:104093814-104093825
17	MAZ	chr5:104098376-104098518	HepG2	liver:	n/a	n/a
18	MAZ	chr5:104097483-104097511	HepG2	liver:	n/a	n/a
19	MXI1	chr5:104089733-104089748	Hela-S3	cervix:	n/a	n/a
20	PBX3	chr5:104099082-104099430	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr5:104090022-104090256	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:104089994-104090279	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:104094792-104094833	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:104093309-104093481	MCF10A-Er-Src	breast:	n/a	n/a
25	POU5F1	chr5:104090260-104090686	H1-hESC	embryonic stem cell:	n/a	chr5:104090504-104090518
26	STAT3	chr5:104089869-104090046	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr5:104088493-104088742	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr5:104095918-104096028	MCF10A-Er-Src	breast:	n/a	n/a
29	YY1	chr5:104095579-104095874	H1-hESC	embryonic stem cell:	n/a	chr5:104095728-104095740
30	YY1	chr5:104098962-104099164	SK-N-SH_RA	brain:	n/a	n/a
31	ZC3H11A	chr5:104091601-104091825	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104090236-104090286	Jurkat	blood:	n/a
2	chr5:104090236-104090286	H1-hESC	embryonic stem cell:	embryo
3	chr5:104090236-104090286	HCF	heart:	n/a
4	chr5:104090236-104090286	T-47D	breast:	n/a
5	chr5:104090236-104090286	AoSMC	blood vessel:	n/a
6	chr5:104090236-104090286	HRCEpiC	kidney:	n/a
7	chr5:104090236-104090286	AG10803	skin:	n/a
8	chr5:104090236-104090286	PFSK-1	brain:	n/a
9	chr5:104090236-104090286	PrEC	prostate:	n/a
10	chr5:104090236-104090286	ECC-1	luminal epithelium:	n/a
11	chr5:104090236-104090286	SK-N-SH	brain:	n/a
12	chr5:104090236-104090286	AG04449	skin:	fetal
13	chr5:104090236-104090286	BJ	skin:	n/a
14	chr5:104090236-104090286	HAEpiC	amniotic membrane:	n/a
15	chr5:104090236-104090286	MCF-7	breast:	n/a
16	chr5:104090236-104090286	GM19239	blood:	n/a
17	chr5:104090236-104090286	AG09309	skin:	n/a
18	chr5:104090236-104090286	HRPEpiC	eye:	n/a
19	chr5:104090236-104090286	HNPCEpiC	eye:	n/a
20	chr5:104090236-104090286	SAEC	small airway:	n/a
21	chr5:104090236-104090286	BE2_C	brain:	n/a
22	chr5:104090236-104090286	NB4	blood:	n/a
23	chr5:104090236-104090286	NT2-D1	testis:	n/a
24	chr5:104090236-104090286	RPTEC	kidney:	n/a
25	chr5:104090236-104090286	SK-N-SH_RA	brain:	n/a
26	chr5:104090236-104090286	A549	lung:	n/a
27	chr5:104090236-104090286	HIPEpiC	eye:	n/a
28	chr5:104090236-104090286	NHDF-neo	bronchial:	n/a
29	chr5:104090236-104090286	NH-A	brain:	n/a
30	chr5:104090236-104090286	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:104090236-104090286	HMEC	breast:	n/a
32	chr5:104090236-104090286	IMR90	lung:	fetal
33	chr5:104090236-104090286	Caco-2	colon:	n/a
34	chr5:104090236-104090286	U87	brain:	n/a
35	chr5:104090236-104090286	HRE	kidney:	n/a
36	chr5:104090236-104090286	Hela-S3	cervix:	n/a
37	chr5:104090236-104090286	Hepatocyte	liver:	n/a
38	chr5:104090236-104090286	SKMC	muscle:	n/a
39	chr5:104090236-104090286	AG04450	lung:	fetal
40	chr5:104090236-104090286	CMK	blood:	n/a
41	chr5:104090236-104090286	HCM	heart:	n/a
42	chr5:104090236-104090286	HCT-116	colon:	n/a
43	chr5:104090236-104090286	NHBE	bronchial:	n/a
44	chr5:104090236-104090286	GM12878	blood:	n/a
45	chr5:104090236-104090286	PANC-1	pancreas:	n/a
46	chr5:104090236-104090286	HEEpiC	esophagus:	n/a
47	chr5:104090236-104090286	HCPEpiC	choroid plexus:	n/a
48	chr5:104090236-104090286	K562	blood:	n/a
49	chr5:104090236-104090286	GM12891	blood:	n/a
50	chr5:104090236-104090286	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
2	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
3	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
4	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103082
2	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
3	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103081
4	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
5	lnc-C5orf30-2	chr5:104098977-104099084	XLOC_004497
6	lnc-NUDT12-5	chr5:104098932-104099084	ENSG00000251574
7	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
8	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
9	lnc-NUDT12-13	chr5:104103132-104103235	l_2988_chr5:104103131-104137422_testes

Variant related genes	Relation type
ENSG00000253776	TF binding region
ENSG00000251574	TF binding region
ENSG00000253776	CpG island
ENSG00000251574	CpG island
CREB3L2	miRNA target sites

Extended variants
information (count: 293 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568447093	chr5:104089672-104089673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181288741	chr5:104089713-104089714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547597784	chr5:104089741-104089742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35933119	chr5:104089761-104089762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1995370	chr5:104089762-104089763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559268590	chr5:104089887-104089888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141577486	chr5:104089915-104089916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186531142	chr5:104089922-104089923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537823167	chr5:104089960-104089961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554574893	chr5:104089965-104089966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75884844	chr5:104089985-104089986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533680213	chr5:104089993-104089994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374218204	chr5:104090007-104090008	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559998966	chr5:104090024-104090025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576976082	chr5:104090058-104090059	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546034963	chr5:104090121-104090122	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575315014	chr5:104090122-104090123	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191804691	chr5:104090142-104090143	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377059221	chr5:104090178-104090179	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139427070	chr5:104090186-104090187	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181857615	chr5:104090237-104090238	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150026664	chr5:104090262-104090263	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377510004	chr5:104090323-104090324	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570963112	chr5:104090335-104090336	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369499452	chr5:104090384-104090385	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538835851	chr5:104090385-104090386	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77026376	chr5:104090442-104090443	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557791510	chr5:104090485-104090486	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369396248	chr5:104090491-104090492	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572838315	chr5:104090549-104090550	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569149540	chr5:104090551-104090552	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187277895	chr5:104090557-104090558	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554580311	chr5:104090565-104090566	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540576688	chr5:104090568-104090569	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34988737	chr5:104090593-104090594	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs325492	chr5:104090636-104090637	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs533554946	chr5:104090724-104090725	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553827336	chr5:104090837-104090838	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77682640	chr5:104090855-104090856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545971798	chr5:104090879-104090880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556367071	chr5:104090953-104090954	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144349065	chr5:104090982-104090983	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs542475948	chr5:104091001-104091002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562255770	chr5:104091059-104091060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527639739	chr5:104091072-104091073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573784936	chr5:104091084-104091085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541115896	chr5:104091085-104091086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112366394	chr5:104091089-104091090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192034286	chr5:104091148-104091149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376987247	chr5:104091191-104091192	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104089600-104090800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:104089800-104090000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:104089800-104090200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:104089800-104091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:104089800-104091200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:104089800-104091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:104089800-104091200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:104089800-104091400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:104090000-104090600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:104090000-104090600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:104090200-104090400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:104090200-104090600	Enhancers	Brain Germinal Matrix	brain
13	chr5:104090200-104091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:104090400-104090800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:104090600-104090800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:104090800-104091000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:104091200-104092600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:104091400-104095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:104095000-104095800	Enhancers	HUES64 Cell Line	embryonic stem cell

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