Variant report

Variant	nsv971240
Chromosome Location	chr8:62797362-62816124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr8:62801939-62802180	K562	blood:	n/a	n/a
2	CEBPB	chr8:62809069-62809099	HepG2	liver:	n/a	chr8:62809082-62809093
3	CEBPB	chr8:62801060-62801173	HepG2	liver:	n/a	chr8:62801132-62801143 chr8:62801134-62801143
4	CTCF	chr8:62800040-62800190	WI-38	lung:	n/a	n/a
5	CTCF	chr8:62814409-62814456	Lung_OC	lung:	n/a	n/a
6	CTCF	chr8:62809380-62809530	WI-38	lung:	n/a	n/a
7	CUX1	chr8:62801913-62802143	K562	blood:	n/a	n/a
8	E2F4	chr8:62809822-62809893	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:62801987-62802021	MCF10A-Er-Src	breast:	n/a	chr8:62801994-62802002
10	FOS	chr8:62802003-62802065	MCF10A-Er-Src	breast:	n/a	n/a
11	JUND	chr8:62807171-62807235	HepG2	liver:	n/a	chr8:62807188-62807195 chr8:62807187-62807195 chr8:62807185-62807197 chr8:62807185-62807196 chr8:62807187-62807196
12	KAP1	chr8:62812426-62812684	K562	blood:	n/a	n/a
13	KAP1	chr8:62810811-62811337	K562	blood:	n/a	chr8:62811264-62811272
14	MAFF	chr8:62801929-62802202	K562	blood:	n/a	chr8:62802063-62802081
15	MAFF	chr8:62802008-62802094	HepG2	liver:	n/a	chr8:62802063-62802081
16	MAFK	chr8:62799772-62799932	HepG2	liver:	n/a	chr8:62799893-62799908
17	MAFK	chr8:62798408-62798445	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr8:62804146-62804197	HepG2	liver:	n/a	chr8:62804168-62804183
19	MAFK	chr8:62801882-62802230	K562	blood:	n/a	n/a
20	NR2F2	chr8:62801840-62802149	K562	blood:	n/a	n/a
21	POLR2A	chr8:62799256-62799409	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:62799729-62799884	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:62815715-62815828	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:62815652-62815679	Gliobla	brain:	n/a	n/a
25	POLR2A	chr8:62801869-62802156	U87	brain:	n/a	n/a
26	POLR2A	chr8:62815545-62815562	MCF-7	breast:	n/a	n/a
27	POLR2A	chr8:62804338-62804504	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr8:62812201-62812215	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr8:62812582-62812742	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:62799429-62799444	MCF-7	breast:	n/a	n/a
31	RCOR1	chr8:62801933-62802188	K562	blood:	n/a	n/a
32	STAT3	chr8:62807084-62807159	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr8:62801460-62801545	MCF10A-Er-Src	breast:	n/a	chr8:62801506-62801518
34	TAL1	chr8:62800454-62800686	K562	blood:	n/a	chr8:62800556-62800574
35	ZNF143	chr8:62815588-62815662	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:62815650-62815700	ProgFib	skin:	n/a
2	chr8:62815650-62815700	HCM	heart:	n/a
3	chr8:62815595-62815645	ECC-1	luminal epithelium:	n/a
4	chr8:62815595-62815645	NB4	blood:	n/a
5	chr8:62815595-62815645	GM06990	blood:	n/a
6	chr8:62815650-62815700	T-47D	breast:	n/a
7	chr8:62815595-62815645	SK-N-MC	brain:	n/a
8	chr8:62815595-62815645	HRPEpiC	eye:	n/a
9	chr8:62815595-62815645	A549	lung:	n/a
10	chr8:62815595-62815645	AG10803	skin:	n/a
11	chr8:62815595-62815645	HIPEpiC	eye:	n/a
12	chr8:62815650-62815700	AG10803	skin:	n/a
13	chr8:62815595-62815645	NHDF-neo	bronchial:	n/a
14	chr8:62815650-62815700	HRE	kidney:	n/a
15	chr8:62815650-62815700	HepG2	liver:	n/a
16	chr8:62815650-62815700	RPTEC	kidney:	n/a
17	chr8:62815595-62815645	HCT-116	colon:	n/a
18	chr8:62815650-62815700	HUVEC	blood vessel:	n/a
19	chr8:62815595-62815645	HEK293	kidney:	embryo
20	chr8:62815650-62815700	H1-hESC	embryonic stem cell:	embryo
21	chr8:62815595-62815645	AoSMC	blood vessel:	n/a
22	chr8:62815595-62815645	MCF10A-Er-Src	breast:	n/a
23	chr8:62815650-62815700	NT2-D1	testis:	n/a
24	chr8:62815650-62815700	NHBE	bronchial:	n/a
25	chr8:62815650-62815700	MCF-7	breast:	n/a
26	chr8:62815650-62815700	BJ	skin:	n/a
27	chr8:62815650-62815700	HAEpiC	amniotic membrane:	n/a
28	chr8:62815595-62815645	NH-A	brain:	n/a
29	chr8:62815650-62815700	PrEC	prostate:	n/a
30	chr8:62815650-62815700	LNCaP	prostate:	n/a
31	chr8:62815650-62815700	Hepatocyte	liver:	n/a
32	chr8:62815595-62815645	MCF-7	breast:	n/a
33	chr8:62815595-62815645	HEEpiC	esophagus:	n/a
34	chr8:62815650-62815700	GM06990	blood:	n/a
35	chr8:62815650-62815700	HMEC	breast:	n/a
36	chr8:62815650-62815700	GM12892	blood:	n/a
37	chr8:62815650-62815700	HCT-116	colon:	n/a
38	chr8:62815595-62815645	AG09309	skin:	n/a
39	chr8:62815650-62815700	MCF10A-Er-Src	breast:	n/a
40	chr8:62815595-62815645	HL-60	blood:	n/a
41	chr8:62815650-62815700	HRPEpiC	eye:	n/a
42	chr8:62815650-62815700	Caco-2	colon:	n/a
43	chr8:62815595-62815645	NT2-D1	testis:	n/a
44	chr8:62815650-62815700	GM19239	blood:	n/a
45	chr8:62815650-62815700	AG09309	skin:	n/a
46	chr8:62815650-62815700	GM12878	blood:	n/a
47	chr8:62815595-62815645	Caco-2	colon:	n/a
48	chr8:62815650-62815700	NHDF-neo	bronchial:	n/a
49	chr8:62815650-62815700	HCPEpiC	choroid plexus:	n/a
50	chr8:62815650-62815700	SKMC	muscle:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62790960..62793781-chr8:62797496..62800114,3	K562	blood:
2	chr8:62804137..62806853-chr8:62809046..62810581,2	K562	blood:
3	chr8:62804137..62806853-chr8:62809046..62810581,2	K562	blood:
4	chr8:62815283..62816844-chr8:62823393..62825914,2	K562	blood:
5	chr8:62799541..62801529-chr8:62809372..62812166,2	MCF-7	breast:
6	chr8:62800065..62803153-chr8:62804374..62807393,4	K562	blood:
7	chr8:62806937..62809503-chr8:62843192..62845966,2	K562	blood:
8	chr8:62799541..62801529-chr8:62809372..62812166,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-3	chr8:62797844-62798118	NONHSAT126881
2	lnc-NKAIN3-5	chr8:62802398-62802434	ENSG00000254120
3	lnc-CLVS1-3	chr8:62797845-62798118	ENSG00000254119
4	lnc-CLVS1-3	chr8:62807045-62807294	ENSG00000254119
5	lnc-NKAIN3-5	chr8:62806676-62806765	ENSG00000254120
6	lnc-CLVS1-3	chr8:62797845-62798104	XLOC_006817
7	lnc-CLVS1-3	chr8:62807045-62807294	NONHSAT126881
8	lnc-NKAIN3-5	chr8:62805262-62805400	ENSG00000254120
9	lnc-CLVS1-3	chr8:62797845-62798121	ENSG00000254119
10	lnc-NKAIN3-5	chr8:62805893-62806033	ENSG00000254120

No data

Variant related genes	Relation type
ENSG00000254120	TF binding region
ENSG00000254120	CpG island
ENSG00000254120	chromatin interactions
ENSG00000254119	chromatin interactions

Extended variants
information (count: 339 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560458204	chr8:62797513-62797514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558951551	chr8:62797519-62797520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114975008	chr8:62797569-62797570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542417005	chr8:62797606-62797607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561125608	chr8:62797642-62797643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116771760	chr8:62797706-62797707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570401868	chr8:62797718-62797719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139848600	chr8:62797731-62797732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186888482	chr8:62797732-62797733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112174817	chr8:62797815-62797816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374689231	chr8:62797836-62797837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145485252	chr8:62797840-62797841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557291852	chr8:62797914-62797915	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs539177533	chr8:62797919-62797920	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs147692844	chr8:62797924-62797925	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs548651388	chr8:62797962-62797963	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs570211754	chr8:62798009-62798010	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs191630039	chr8:62798013-62798014	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs377399001	chr8:62798026-62798027	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs559056015	chr8:62798032-62798033	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs140964976	chr8:62798033-62798034	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs556849847	chr8:62798040-62798041	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs7006227	chr8:62798061-62798062	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149933200	chr8:62798075-62798076	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs538097308	chr8:62798116-62798117	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs574779440	chr8:62798138-62798139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185408389	chr8:62798183-62798184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111712285	chr8:62798191-62798192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561054781	chr8:62798239-62798240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189938930	chr8:62798248-62798249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371182928	chr8:62798268-62798269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543236233	chr8:62798269-62798270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564591792	chr8:62798287-62798288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144981975	chr8:62798319-62798320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193260934	chr8:62798360-62798361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs72662627	chr8:62798396-62798397	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559299256	chr8:62798401-62798402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572933018	chr8:62798402-62798403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572715790	chr8:62798424-62798425	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529687334	chr8:62798431-62798432	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35368321	chr8:62798443-62798444	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548850717	chr8:62798550-62798551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149117111	chr8:62798589-62798590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540898750	chr8:62798599-62798600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111894445	chr8:62798642-62798643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553899633	chr8:62798647-62798648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375696796	chr8:62798650-62798651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185370890	chr8:62798684-62798685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570916076	chr8:62798697-62798698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544771764	chr8:62798698-62798699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62798800-62799800	ZNF genes & repeats	Pancreas	Pancrea
2	chr8:62800800-62801000	Enhancers	K562	blood
3	chr8:62801000-62801800	Weak transcription	K562	blood
4	chr8:62801800-62802400	Enhancers	K562	blood
5	chr8:62803800-62804400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:62811200-62812200	Enhancers	GM12878-XiMat	blood

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