Variant report

Variant	nsv981482
Chromosome Location	chr7:56695953-56760954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:56751681-56751881	HepG2	liver:	n/a	chr7:56751779-56751790
2	CEBPB	chr7:56713178-56713213	HepG2	liver:	n/a	chr7:56713195-56713206
3	CEBPB	chr7:56733347-56733611	A549	lung:	n/a	n/a
4	CEBPB	chr7:56734271-56734923	A549	lung:	n/a	chr7:56734581-56734592
5	CEBPB	chr7:56730638-56730974	A549	lung:	n/a	n/a
6	CEBPB	chr7:56730498-56730999	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:56734220-56734981	HepG2	liver:	n/a	chr7:56734581-56734592
8	CEBPB	chr7:56733323-56733565	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:56713047-56713333	IMR90	lung:	n/a	chr7:56713195-56713206
10	CEBPB	chr7:56734487-56734699	Hela-S3	cervix:	n/a	chr7:56734581-56734592
11	CEBPB	chr7:56734429-56734900	IMR90	lung:	n/a	chr7:56734581-56734592
12	CEBPB	chr7:56732322-56732656	IMR90	lung:	n/a	chr7:56732486-56732497
13	CEBPB	chr7:56736204-56736547	A549	lung:	n/a	chr7:56736314-56736325
14	CEBPB	chr7:56732302-56732662	A549	lung:	n/a	chr7:56732486-56732497
15	CEBPB	chr7:56728663-56729152	HepG2	liver:	n/a	n/a
16	CEBPB	chr7:56735923-56736529	HepG2	liver:	n/a	chr7:56736314-56736325
17	CEBPB	chr7:56732310-56732713	HepG2	liver:	n/a	chr7:56732486-56732497
18	CEBPB	chr7:56736204-56736507	IMR90	lung:	n/a	chr7:56736314-56736325
19	CEBPB	chr7:56736247-56736506	Hela-S3	cervix:	n/a	chr7:56736314-56736325
20	CEBPB	chr7:56713090-56713282	A549	lung:	n/a	chr7:56713195-56713206
21	CEBPB	chr7:56728718-56729133	A549	lung:	n/a	n/a
22	CTCF	chr7:56718813-56718857	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr7:56744926-56744978	LNCaP	prostate:	n/a	n/a
24	CTCF	chr7:56759364-56759458	LNCaP	prostate:	n/a	n/a
25	CTCF	chr7:56702121-56702251	GM20000	blood:	n/a	n/a
26	CTCF	chr7:56723471-56723522	GM13976	blood:	n/a	n/a
27	CTCF	chr7:56712000-56712150	Caco-2	colon:	n/a	n/a
28	CTCF	chr7:56721582-56721628	LNCaP	prostate:	n/a	n/a
29	CTCF	chr7:56728349-56728395	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr7:56744569-56744672	GM13977	blood:	n/a	n/a
31	CTCF	chr7:56759363-56759374	GM10266	blood:	n/a	n/a
32	E2F4	chr7:56739566-56739572	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:56734787-56734971	MCF10A-Er-Src	breast:	n/a	n/a
34	JUN	chr7:56734888-56735088	HepG2	liver:	n/a	n/a
35	JUND	chr7:56734677-56735295	SK-N-SH	brain:	n/a	chr7:56734930-56734941
36	JUND	chr7:56734766-56735086	HepG2	liver:	n/a	chr7:56734930-56734941
37	JUND	chr7:56731788-56731868	HepG2	liver:	n/a	chr7:56731827-56731838
38	KAP1	chr7:56706809-56707384	K562	blood:	n/a	n/a
39	KAP1	chr7:56753847-56754475	K562	blood:	n/a	n/a
40	MAFK	chr7:56706024-56706319	HepG2	liver:	n/a	n/a
41	MAFK	chr7:56738866-56738929	HepG2	liver:	n/a	n/a
42	MAFK	chr7:56700265-56700309	IMR90	lung:	n/a	n/a
43	MAFK	chr7:56738778-56739068	HepG2	liver:	n/a	n/a
44	MAFK	chr7:56707082-56707085	HepG2	liver:	n/a	n/a
45	NFYA	chr7:56712178-56712378	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:56719137-56719288	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:56709956-56709967	A549	lung:	n/a	n/a
48	POLR2A	chr7:56753493-56753504	Gliobla	brain:	n/a	n/a
49	POLR2A	chr7:56756445-56756463	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:56744865-56745017	K562	blood:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUMF2-5	chr7:56742545-56742773	XLOC_006112
2	lnc-SUMF2-5	chr7:56735908-56735944	NONHSAT120781
3	lnc-SUMF2-5	chr7:56736818-56737225	XLOC_006112
4	lnc-ZNF479-6	chr7:56706636-56708005	NONHSAT120779
5	lnc-SUMF2-5	chr7:56727477-56727504	XLOC_006112
6	lnc-SUMF2-5	chr7:56736317-56736339	XLOC_006112
7	lnc-SUMF2-5	chr7:56736818-56737219	NONHSAT120789
8	lnc-SUMF2-5	chr7:56736208-56736339	XLOC_006112
9	lnc-ZNF479-6	chr7:56717672-56717767	NONHSAT120779
10	lnc-SUMF2-5	chr7:56742545-56742773	XLOC_006112
11	lnc-SUMF2-5	chr7:56742545-56742767	NONHSAT120787
12	lnc-SUMF2-5	chr7:56742545-56742773	XLOC_006112
13	lnc-SUMF2-5	chr7:56735700-56735944	NONHSAT120787
14	lnc-SUMF2-5	chr7:56731895-56731926	XLOC_006112
15	lnc-SUMF2-5	chr7:56726844-56727044	XLOC_006112
16	lnc-ZNF479-7	chr7:56700124-56700420	NONHSAT120778
17	lnc-SUMF2-5	chr7:56731013-56731048	XLOC_006112
18	lnc-SUMF2-5	chr7:56727156-56727330	XLOC_006112
19	lnc-SUMF2-5	chr7:56726843-56727044	NONHSAT120781
20	lnc-SUMF2-5	chr7:56742545-56742773	XLOC_006112
21	lnc-SUMF2-5	chr7:56736817-56737225	NONHSAT120781
22	lnc-SUMF2-5	chr7:56736043-56736339	NONHSAT120789
23	lnc-SUMF2-5	chr7:56742544-56742773	NONHSAT120781
24	lnc-SUMF2-5	chr7:56736818-56737225	XLOC_006112
25	lnc-SUMF2-5	chr7:56731012-56731048	NONHSAT120781
26	lnc-SUMF2-5	chr7:56727476-56727504	NONHSAT120781
27	lnc-ZNF479-6	chr7:56718265-56718389	NONHSAT120779
28	lnc-SUMF2-5	chr7:56735909-56735944	XLOC_006112
29	lnc-SUMF2-5	chr7:56736207-56736339	NONHSAT120781
30	lnc-SUMF2-5	chr7:56727155-56727330	NONHSAT120781
31	lnc-SUMF2-5	chr7:56729104-56729161	NONHSAT120781
32	lnc-SUMF2-5	chr7:56731894-56731926	NONHSAT120781
33	lnc-ZNF479-7	chr7:56699432-56699828	NONHSAT120778
34	lnc-SUMF2-5	chr7:56729105-56729161	XLOC_006112
35	lnc-SUMF2-5	chr7:56742545-56742773	XLOC_006112
36	lnc-SUMF2-5	chr7:56742545-56742773	XLOC_006112

No data

Variant related genes	Relation type
ENSG00000228303	TF binding region
TRIM60P16	TF binding region
ESYT2	miRNA target sites
CMTM4	miRNA target sites
ETF1	miRNA target sites
NAT8L	miRNA target sites
CNGB1	miRNA target sites
NAV3	miRNA target sites

Extended variants
information (count: 880 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:880 , 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	rs186625454	chr7:56699432-56699433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs62463291	chr7:56699455-56699456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs528210295	chr7:56699457-56699458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs73343667	chr7:56699469-56699470	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559999805	chr7:56699474-56699475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533643594	chr7:56699491-56699492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs376023270	chr7:56699495-56699496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551810145	chr7:56699543-56699544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs146556162	chr7:56699581-56699582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs4948170	chr7:56699583-56699584	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548608782	chr7:56699584-56699585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs35283564	chr7:56699597-56699598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs34656664	chr7:56699620-56699621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372705606	chr7:56699628-56699629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs7782726	chr7:56699650-56699651	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370023578	chr7:56699656-56699657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs567866167	chr7:56699657-56699658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs542444606	chr7:56699692-56699693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs68174956	chr7:56699693-56699694	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377172944	chr7:56699721-56699722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs79545720	chr7:56699722-56699723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374409834	chr7:56699738-56699739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs116658481	chr7:56699744-56699745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs375110800	chr7:56699780-56699781	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537038072	chr7:56699781-56699782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs79129848	chr7:56700126-56700127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs111761770	chr7:56700127-56700128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7802014	chr7:56700170-56700171	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2634083	chr7:56700186-56700187	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs80042847	chr7:56700202-56700203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs535047257	chr7:56700233-56700234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs4599764	chr7:56700254-56700255	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs578079572	chr7:56700255-56700256	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs535088749	chr7:56700274-56700275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs7802180	chr7:56700303-56700304	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs557534191	chr7:56700309-56700310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs375218529	chr7:56700333-56700334	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs575806241	chr7:56700339-56700340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs190092104	chr7:56700406-56700407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs373674061	chr7:56700411-56700412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs560398598	chr7:56702143-56702144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs527549520	chr7:56702162-56702163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs138451019	chr7:56702174-56702175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564251131	chr7:56702175-56702176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs144133447	chr7:56702213-56702214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569396574	chr7:56702403-56702404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs566747681	chr7:56702417-56702418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557725838	chr7:56702481-56702482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1606629	chr7:56702516-56702517	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1606628	chr7:56702526-56702527	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56702400-56708600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr7:56703400-56705200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr7:56703800-56706800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:56704000-56706800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:56704200-56705600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr7:56705400-56708000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:56706800-56708000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr7:56707200-56708800	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr7:56723000-56723200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:56734400-56736400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:56735200-56735600	Active TSS	Fetal Heart	heart
12	chr7:56736600-56736800	ZNF genes & repeats	Pancreas	Pancrea
13	chr7:56736800-56740200	Weak transcription	Pancreas	Pancrea
14	chr7:56752000-56756400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:56752400-56754200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:56752600-56754400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr7:56753000-56754400	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr7:56753400-56755600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr7:56753600-56754200	ZNF genes & repeats	Liver	Liver
20	chr7:56755200-56755600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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