Variant report

Variant	nsv890881
Chromosome Location	chr8:51737153-51946827
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	ATF2	chr8:51934062-51934395	GM12878	blood:	n/a	n/a
2	BACH1	chr8:51760453-51760811	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:51760452-51760813	K562	blood:	n/a	n/a
4	BATF	chr8:51934082-51934330	GM12878	blood:	n/a	chr8:51934250-51934261
5	BATF	chr8:51934115-51934341	GM12878	blood:	n/a	chr8:51934250-51934261
6	BCL11A	chr8:51934103-51934327	GM12878	blood:	n/a	n/a
7	BRCA1	chr8:51771806-51771914	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr8:51815003-51815238	HepG2	liver:	n/a	chr8:51815099-51815110
10	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
11	CEBPB	chr8:51754975-51755240	IMR90	lung:	n/a	n/a
12	CEBPB	chr8:51774506-51774533	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr8:51741473-51741716	IMR90	lung:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
14	CEBPB	chr8:51815008-51815301	Hela-S3	cervix:	n/a	chr8:51815099-51815110
15	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
16	CEBPB	chr8:51741406-51741719	A549	lung:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
17	CEBPB	chr8:51755059-51755254	HepG2	liver:	n/a	n/a
18	CEBPB	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
19	CEBPB	chr8:51741486-51741631	H1-hESC	embryonic stem cell:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
20	CEBPB	chr8:51755011-51755229	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr8:51767482-51767716	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr8:51741395-51741592	K562	blood:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
23	CEBPB	chr8:51741424-51741726	HepG2	liver:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
24	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
25	CTCF	chr8:51775680-51775830	GM12871	blood:	n/a	n/a
26	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:51775761-51775894	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr8:51786680-51786830	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr8:51801274-51801352	GM13976	blood:	n/a	n/a
30	CTCF	chr8:51775770-51775888	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:51775836-51775845	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:51810691-51810820	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:51810696-51810845	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
35	CTCF	chr8:51940220-51940245	Lung_OC	lung:	n/a	n/a
36	CTCF	chr8:51901176-51901215	GM20000	blood:	n/a	n/a
37	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
39	CTCF	chr8:51799400-51799550	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
41	CTCF	chr8:51810682-51810839	MCF-7	breast:	n/a	n/a
42	CTCF	chr8:51775784-51775892	MCF-7	breast:	n/a	n/a
43	CTCF	chr8:51789523-51789562	GM10266	blood:	n/a	n/a
44	CTCF	chr8:51810686-51810812	MCF-7	breast:	n/a	n/a
45	CTCF	chr8:51787374-51787445	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr8:51810660-51810810	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:51810680-51810850	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:51764400-51764550	GM12869	blood:	n/a	n/a
50	CTCF	chr8:51810720-51810870	Caco-2	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
2	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
3	chr8:51767065..51768781-chr8:51770684..51773527,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNTG1-2	chr8:51772090-51772622	NONHSAT126530

Variant related genes	Relation type
ENSG00000253340	TF binding region
ENSG00000201316	TF binding region
ENSG00000253340	chromatin interactions

Extended variants
information (count: 1866 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2069312	chr8:51737426-51737427	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561050250	chr8:51737428-51737429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138042372	chr8:51737446-51737447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546623545	chr8:51737449-51737450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537882462	chr8:51737522-51737523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200999796	chr8:51737583-51737584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs61558677	chr8:51737595-51737596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183266349	chr8:51737640-51737641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188096742	chr8:51737656-51737657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193081477	chr8:51737668-51737669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149499629	chr8:51737712-51737713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6473406	chr8:51737729-51737730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555479599	chr8:51737797-51737798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184234810	chr8:51737824-51737825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187371060	chr8:51737851-51737852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111636686	chr8:51737853-51737854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533751769	chr8:51737870-51737871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192335288	chr8:51737937-51737938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144146665	chr8:51737959-51737960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138927205	chr8:51737978-51737979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184844862	chr8:51737981-51737982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1484129	chr8:51737987-51737988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574528365	chr8:51738110-51738111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377532997	chr8:51738166-51738167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188130367	chr8:51738193-51738194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528592600	chr8:51738235-51738236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546713049	chr8:51738318-51738319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12675337	chr8:51738359-51738360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532413025	chr8:51738370-51738371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551211119	chr8:51738394-51738395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13271648	chr8:51738431-51738432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116275326	chr8:51738443-51738444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548831809	chr8:51738471-51738472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551569742	chr8:51738539-51738540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566548741	chr8:51738558-51738559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529553935	chr8:51738577-51738578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533841789	chr8:51738580-51738581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79261610	chr8:51738590-51738591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180971260	chr8:51738631-51738632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537444945	chr8:51738684-51738685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556419284	chr8:51738717-51738718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570435712	chr8:51738739-51738740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184817174	chr8:51738767-51738768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541986523	chr8:51738788-51738789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553523806	chr8:51738823-51738824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189426548	chr8:51738850-51738851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181486047	chr8:51738854-51738855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143045724	chr8:51738940-51738941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147453717	chr8:51738948-51738949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576637301	chr8:51738957-51738958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51737400-51737600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:51737600-51740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:51745200-51745400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:51745400-51745600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:51745400-51745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:51745600-51746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:51749200-51749400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:51750800-51751800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:51750800-51752200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:51750800-51752200	Enhancers	Dnd41	blood
11	chr8:51750800-51752400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:51751000-51751400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:51751000-51752000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:51751000-51752000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:51751000-51752200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:51751200-51752000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:51751400-51751800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:51751600-51752000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:51751800-51752000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:51751800-51752000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:51751800-51753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:51752000-51753000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:51752000-51753000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:51752000-51753000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:51752000-51753600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:51752000-51754400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:51752200-51752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:51752200-51753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:51752400-51754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:51752600-51756000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:51753000-51754800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:51753000-51755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:51753000-51755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:51753400-51755200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:51753600-51754000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:51753600-51754400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:51753600-51754800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:51753600-51755200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:51753600-51755800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:51753800-51754200	Active TSS	Fetal Lung	lung
41	chr8:51753800-51754600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:51753800-51755200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr8:51753800-51755200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:51754200-51755200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:51754400-51754800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:51754400-51755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:51755200-51756200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:51755200-51757800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:51755600-51756000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:51755600-51757000	Enhancers	Fetal Intestine Large	intestine

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