Variant report

Variant	nsv6189
Chromosome Location	chr8:52145834-52191132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:52176979-52177063	K562	blood:	n/a	n/a
2	ATF2	chr8:52185956-52186392	GM12878	blood:	n/a	n/a
3	ATF2	chr8:52185915-52186577	GM12878	blood:	n/a	n/a
4	BATF	chr8:52186032-52186542	GM12878	blood:	n/a	chr8:52186118-52186126
5	BCL3	chr8:52149772-52149992	GM12878	blood:	n/a	n/a
6	BCL3	chr8:52185889-52186677	GM12878	blood:	n/a	n/a
7	BCLAF1	chr8:52186074-52186470	GM12878	blood:	n/a	n/a
8	CEBPB	chr8:52156035-52156212	A549	lung:	n/a	n/a
9	CEBPB	chr8:52182642-52182781	HepG2	liver:	n/a	chr8:52182668-52182679 chr8:52182667-52182678
10	CTCF	chr8:52190040-52190190	GM12867	blood:	n/a	n/a
11	CTCF	chr8:52180419-52180434	GM13976	blood:	n/a	n/a
12	CTCF	chr8:52157020-52157045	ProgFib	skin:	n/a	n/a
13	CTCF	chr8:52168780-52168930	GM12872	blood:	n/a	n/a
14	CTCF	chr8:52156260-52156410	Caco-2	colon:	n/a	n/a
15	CTCF	chr8:52184000-52184150	GM12866	blood:	n/a	n/a
16	CTCF	chr8:52170725-52170785	GM20000	blood:	n/a	n/a
17	CUX1	chr8:52164875-52165201	GM12878	blood:	n/a	n/a
18	CUX1	chr8:52186114-52186300	GM12878	blood:	n/a	n/a
19	E2F4	chr8:52154943-52155131	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr8:52153766-52153827	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr8:52186047-52186578	GM12878	blood:	n/a	n/a
22	EBF1	chr8:52149776-52150110	GM12878	blood:	n/a	chr8:52149937-52149948
23	EBF1	chr8:52185990-52186512	GM12878	blood:	n/a	n/a
24	EBF1	chr8:52185997-52186425	GM12878	blood:	n/a	n/a
25	EP300	chr8:52186153-52186164	GM12878	blood:	n/a	n/a
26	EP300	chr8:52186120-52186416	GM12878	blood:	n/a	n/a
27	FOS	chr8:52180846-52181010	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXM1	chr8:52187250-52187769	GM12878	blood:	n/a	n/a
29	FOXM1	chr8:52185906-52186607	GM12878	blood:	n/a	n/a
30	HEY1	chr8:52184523-52184771	K562	blood:	n/a	n/a
31	IRF4	chr8:52186090-52186565	GM12878	blood:	n/a	n/a
32	JUND	chr8:52166805-52166927	HepG2	liver:	n/a	n/a
33	MAFF	chr8:52156493-52156697	HepG2	liver:	n/a	chr8:52156570-52156588
34	MAFK	chr8:52156476-52156704	HepG2	liver:	n/a	chr8:52156572-52156587
35	MAFK	chr8:52156451-52156697	HepG2	liver:	n/a	chr8:52156572-52156587
36	MTA3	chr8:52186012-52186612	GM12878	blood:	n/a	n/a
37	MTA3	chr8:52185867-52186635	GM12878	blood:	n/a	n/a
38	MYC	chr8:52183916-52184002	MCF-7	breast:	n/a	n/a
39	NFATC1	chr8:52185970-52186528	GM12878	blood:	n/a	n/a
40	NFIC	chr8:52187125-52188288	GM12878	blood:	n/a	n/a
41	NFIC	chr8:52185513-52186754	GM12878	blood:	n/a	n/a
42	NFIC	chr8:52179876-52180270	GM12878	blood:	n/a	n/a
43	NFIC	chr8:52185989-52186486	GM12878	blood:	n/a	n/a
44	NFYB	chr8:52184227-52184676	GM12878	blood:	n/a	n/a
45	NFYB	chr8:52184311-52184693	K562	blood:	n/a	n/a
46	NFYB	chr8:52188137-52188493	GM12878	blood:	n/a	n/a
47	NFYB	chr8:52146244-52146389	GM12878	blood:	n/a	n/a
48	NFYB	chr8:52149977-52150155	GM12878	blood:	n/a	n/a
49	NRF1	chr8:52186281-52186317	GM12878	blood:	n/a	n/a
50	PAX5	chr8:52183561-52183776	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41400152..41402660-chr8:52157778..52160758,2	K562	blood:
2	chr8:52189412..52191198-chr8:52195033..52197163,2	MCF-7	breast:
3	chr17:41398392..41400915-chr8:52157758..52159278,2	K562	blood:
4	chr17:41466381..41468590-chr8:52157758..52159258,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNTG1-1	chr8:52170248-52170367	ENSG00000253664.1

No data

Variant related genes	Relation type
ENSG00000253664	TF binding region
ENSG00000188825	chromatin interactions

Extended variants
information (count: 637 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533671857	chr8:52149630-52149631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545303101	chr8:52149702-52149703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10102083	chr8:52149723-52149724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530979991	chr8:52149729-52149730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193225735	chr8:52149756-52149757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1437602	chr8:52149784-52149785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528103535	chr8:52149795-52149796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546216017	chr8:52149823-52149824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546609585	chr8:52149878-52149879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559030366	chr8:52149896-52149897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575702357	chr8:52149936-52149937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185659907	chr8:52149960-52149961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538908352	chr8:52149988-52149989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556941235	chr8:52150020-52150021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79485573	chr8:52150056-52150057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377576438	chr8:52150068-52150069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73680856	chr8:52150077-52150078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536011349	chr8:52150129-52150130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117364383	chr8:52150136-52150137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148739550	chr8:52150174-52150175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188089380	chr8:52150179-52150180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542474340	chr8:52150213-52150214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150890245	chr8:52150227-52150228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552930878	chr8:52150240-52150241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531858535	chr8:52150241-52150242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113024889	chr8:52150257-52150258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527424575	chr8:52150270-52150271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72246529	chr8:52150271-52150272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111670330	chr8:52150348-52150349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545701927	chr8:52150352-52150353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181020872	chr8:52150398-52150399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531138969	chr8:52150400-52150401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185096243	chr8:52150406-52150407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116016804	chr8:52150433-52150434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377163373	chr8:52150462-52150463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541094993	chr8:52150534-52150535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546652538	chr8:52150552-52150553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150876775	chr8:52150553-52150554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188389287	chr8:52150581-52150582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535318799	chr8:52157857-52157858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548607828	chr8:52157865-52157866	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4873189	chr8:52157888-52157889	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1437600	chr8:52157918-52157919	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143258024	chr8:52157987-52157988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4873530	chr8:52157990-52157991	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537566791	chr8:52158032-52158033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376906259	chr8:52158039-52158040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112474219	chr8:52158064-52158065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369139273	chr8:52158078-52158079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555815441	chr8:52158106-52158107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52149600-52150600	Enhancers	Fetal Brain Male	brain
2	chr8:52149800-52150200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:52149800-52150200	Enhancers	Fetal Brain Female	brain
4	chr8:52149800-52150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:52163600-52165000	Enhancers	Fetal Brain Male	brain
6	chr8:52180200-52180400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:52180200-52180600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:52180400-52181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:52180400-52189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:52180600-52181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:52181000-52181800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:52183600-52184200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:52184200-52197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:52185600-52188600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:52185800-52188400	Enhancers	GM12878-XiMat	blood
16	chr8:52186200-52186600	Enhancers	Spleen	Spleen
17	chr8:52188000-52191200	Enhancers	Fetal Brain Male	brain
18	chr8:52188200-52188400	Enhancers	Spleen	Spleen
19	chr8:52188200-52191200	Enhancers	Brain Germinal Matrix	brain
20	chr8:52188800-52191200	Enhancers	Fetal Brain Female	brain
21	chr8:52189200-52190800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:52189400-52189600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:52189400-52190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:52189400-52190400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:52189400-52190400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:52189600-52189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:52190200-52193800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:52190400-52191400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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