Variant report

Variant	nsv520587
Chromosome Location	chr8:69530428-69535622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:69534536-69535195	MCF-7	breast:	n/a	n/a
2	CEBPB	chr8:69534587-69535084	MCF-7	breast:	n/a	n/a
3	CTCF	chr8:69534580-69534730	MCF-7	breast:	n/a	n/a
4	EP300	chr8:69534623-69535087	T-47D	breast:	n/a	chr8:69534691-69534705
5	EP300	chr8:69534540-69535493	T-47D	breast:	n/a	chr8:69535168-69535182 chr8:69534691-69534705
6	EP300	chr8:69534335-69535230	MCF-7	breast:	n/a	chr8:69535168-69535182 chr8:69534691-69534705
7	ESR1	chr8:69534459-69535487	T-47D	breast:	n/a	n/a
8	ESR1	chr8:69534422-69535497	T-47D	breast:	n/a	n/a
9	ESR1	chr8:69534690-69535515	T-47D	breast:	n/a	n/a
10	ESR1	chr8:69534680-69535482	T-47D	breast:	n/a	n/a
11	ESR1	chr8:69534449-69535539	T-47D	breast:	n/a	n/a
12	ESR1	chr8:69534461-69535526	T-47D	breast:	n/a	n/a
13	FOXA1	chr8:69534100-69534463	T-47D	breast:	n/a	n/a
14	FOXA1	chr8:69534619-69535150	T-47D	breast:	n/a	n/a
15	FOXA1	chr8:69534629-69535073	T-47D	breast:	n/a	n/a
16	FOXA1	chr8:69535173-69535469	T-47D	breast:	n/a	n/a
17	FOXA1	chr8:69534749-69534971	A549	lung:	n/a	n/a
18	FOXM1	chr8:69534499-69535380	MCF-7	breast:	n/a	n/a
19	GATA3	chr8:69534558-69535623	T-47D	breast:	n/a	n/a
20	GATA3	chr8:69534443-69535726	MCF-7	breast:	n/a	n/a
21	GATA3	chr8:69534540-69535236	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr8:69534599-69535216	MCF-7	breast:	n/a	n/a
23	GATA3	chr8:69534459-69535262	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr8:69534624-69535166	A549	lung:	n/a	n/a
25	GATA3	chr8:69534138-69535548	MCF-7	breast:	n/a	n/a
26	GATA3	chr8:69534544-69535554	T-47D	breast:	n/a	n/a
27	GATA3	chr8:69534148-69535605	MCF-7	breast:	n/a	n/a
28	HDAC2	chr8:69534679-69535288	MCF-7	breast:	n/a	chr8:69534688-69534702 chr8:69534691-69534705 chr8:69534686-69534700 chr8:69534689-69534703 chr8:69534687-69534701 chr8:69534690-69534704
29	JUND	chr8:69534568-69535369	T-47D	breast:	n/a	n/a
30	JUND	chr8:69534547-69535374	T-47D	breast:	n/a	n/a
31	NR2F2	chr8:69534462-69535284	MCF-7	breast:	n/a	n/a
32	NR2F2	chr8:69534356-69535198	MCF-7	breast:	n/a	n/a
33	POLR2A	chr8:69532595-69532734	A549	lung:	n/a	n/a
34	POLR2A	chr8:69533970-69534431	ProgFib	skin:	n/a	n/a
35	POLR2A	chr8:69532608-69532726	MCF-7	breast:	n/a	n/a
36	POLR2A	chr8:69532535-69532587	A549	lung:	n/a	n/a
37	RAD21	chr8:69534582-69535386	MCF-7	breast:	n/a	n/a
38	RAD21	chr8:69534572-69535187	MCF-7	breast:	n/a	n/a
39	SIN3AK20	chr8:69534446-69535412	MCF-7	breast:	n/a	n/a
40	SIN3AK20	chr8:69534081-69535716	MCF-7	breast:	n/a	n/a
41	TCF12	chr8:69534501-69534999	A549	lung:	n/a	n/a
42	TCF12	chr8:69534467-69535271	MCF-7	breast:	n/a	n/a
43	TCF7L2	chr8:69534536-69535455	MCF-7	breast:	n/a	chr8:69534932-69534946
44	TEAD4	chr8:69534710-69535237	MCF-7	breast:	n/a	n/a
45	TEAD4	chr8:69534703-69535165	MCF-7	breast:	n/a	n/a
46	ZNF217	chr8:69534389-69535357	MCF-7	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69492103..69494727-chr8:69533506..69535044,2	MCF-7	breast:
2	chr8:69489824..69491540-chr8:69533022..69534963,2	MCF-7	breast:
3	chr8:69533271..69537103-chr8:69641120..69648413,10	MCF-7	breast:
4	chr8:69496116..69499220-chr8:69532827..69534879,3	MCF-7	breast:
5	chr8:69532014..69534673-chr8:69610111..69611773,2	MCF-7	breast:
6	chr8:69534697..69535499-chr8:69765415..69766189,3	MCF-7	breast:
7	chr8:69532291..69534755-chr8:69764407..69765962,2	MCF-7	breast:
8	chr19:7264702..7266418-chr8:69534338..69536805,2	MCF-7	breast:
9	chr8:69534376..69536332-chr8:69649057..69650937,3	MCF-7	breast:
10	chr8:69533114..69536525-chr8:69763843..69767618,4	MCF-7	breast:
11	chr8:69534052..69536698-chr8:70069393..70070949,2	MCF-7	breast:
12	chr8:69533205..69534813-chr8:69643253..69646107,2	MCF-7	breast:
13	chr8:69534291..69534942-chr8:69765230..69765734,2	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf34	TF binding region
ENSG00000254337	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184396552	chr8:69532332-69532333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189229393	chr8:69532333-69532334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368424177	chr8:69532446-69532447	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542492244	chr8:69532457-69532458	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555503103	chr8:69532458-69532459	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181895426	chr8:69532481-69532482	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1434923	chr8:69532529-69532530	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184922215	chr8:69532572-69532573	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs578111065	chr8:69532581-69532582	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561998545	chr8:69532601-69532602	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546044160	chr8:69532634-69532635	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559556227	chr8:69532668-69532669	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528410618	chr8:69532743-69532744	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374090991	chr8:69532785-69532786	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561568639	chr8:69532793-69532794	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79916230	chr8:69532811-69532812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550112859	chr8:69532814-69532815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116144429	chr8:69532857-69532858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539109290	chr8:69532863-69532864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79304018	chr8:69532899-69532900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77883923	chr8:69532901-69532902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75185969	chr8:69532913-69532914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4993631	chr8:69532928-69532929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535816387	chr8:69532929-69532930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7465300	chr8:69532933-69532934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4993630	chr8:69532938-69532939	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9720578	chr8:69532940-69532941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143180081	chr8:69532941-69532942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538243762	chr8:69532992-69532993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558158066	chr8:69533030-69533031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11783166	chr8:69533044-69533045	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368367463	chr8:69533134-69533135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540716712	chr8:69533212-69533213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573994805	chr8:69533213-69533214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550782261	chr8:69533234-69533235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138937406	chr8:69533243-69533244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572991536	chr8:69533293-69533294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541618287	chr8:69533346-69533347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562019490	chr8:69533366-69533367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530687237	chr8:69533373-69533374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532462764	chr8:69533375-69533376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544236020	chr8:69533416-69533417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs16934789	chr8:69533468-69533469	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148779211	chr8:69533484-69533485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563721663	chr8:69533504-69533505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532889763	chr8:69533562-69533563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546283834	chr8:69533568-69533569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116662793	chr8:69533657-69533658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536058524	chr8:69533678-69533679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549265704	chr8:69533704-69533705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69532400-69532800	ZNF genes & repeats	Aorta	Aorta
2	chr8:69532600-69532800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:69532800-69544800	Weak transcription	Aorta	Aorta
4	chr8:69534200-69534400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:69534200-69535000	Enhancers	Fetal Lung	lung
6	chr8:69534200-69535400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:69534200-69535400	Enhancers	NHDF-Ad	bronchial
8	chr8:69534200-69536000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:69534400-69534600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:69534400-69535400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:69534600-69535000	Enhancers	NHLF	lung
12	chr8:69535000-69537000	Weak transcription	NHLF	lung
13	chr8:69535400-69537000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:69535400-69537000	Weak transcription	NHDF-Ad	bronchial

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