Variant report

Variant	nsv527669
Chromosome Location	chr8:88762919-88786777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:88763797-88763933	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:88776700-88776957	H1-hESC	embryonic stem cell:	n/a	chr8:88776818-88776829
3	CTCF	chr8:88785040-88785190	HRE	kidney:	n/a	n/a
4	CTCF	chr8:88763783-88763801	GM10266	blood:	n/a	n/a
5	CTCF	chr8:88785040-88785190	HPF	lung:	n/a	n/a
6	CTCF	chr8:88785100-88785250	HPF	lung:	n/a	n/a
7	CTCF	chr8:88772060-88772210	GM12865	blood:	n/a	n/a
8	E2F4	chr8:88784454-88784461	MCF10A-Er-Src	breast:	n/a	n/a
9	EBF1	chr8:88770307-88770309	GM12878	blood:	n/a	n/a
10	GATA3	chr8:88763640-88764172	T-47D	breast:	n/a	n/a
11	MAFK	chr8:88775299-88775481	HepG2	liver:	n/a	chr8:88775437-88775457 chr8:88775440-88775454 chr8:88775443-88775453 chr8:88775439-88775455
12	MAZ	chr8:88766117-88766290	HepG2	liver:	n/a	n/a
13	MYC	chr8:88770355-88770449	MCF10A-Er-Src	breast:	n/a	n/a
14	NFYA	chr8:88783096-88783210	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:88782622-88782629	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:88777743-88777851	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:88770836-88770899	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:88771852-88771877	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:88782639-88782723	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:88767103-88767190	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr8:88768561-88768751	MCF10A-Er-Src	breast:	n/a	n/a
22	TEAD4	chr8:88764399-88764814	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr8:88764404-88764812	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr8:88763704-88764124	H1-hESC	embryonic stem cell:	n/a	n/a
25	TEAD4	chr8:88763764-88764224	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF1	chr8:88763588-88763823	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr8:88763825-88764025	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:88771464..88773201-chr8:88775160..88777510,2	MCF-7	breast:
2	chr2:123589396..123591482-chr8:88778600..88780103,2	MCF-7	breast:
3	chr8:88752001..88754722-chr8:88761392..88764098,2	MCF-7	breast:
4	chr8:88771464..88773201-chr8:88775160..88777510,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF4L2-2	chr8:88767880-88767923	ENSG00000253500.1
2	lnc-DCAF4L2-2	chr8:88767880-88767946	ENSG00000253500.1
3	lnc-DCAF4L2-2	chr8:88763435-88763545	ENSG00000253500.1
4	lnc-DCAF4L2-2	chr8:88763435-88763545	ENSG00000253500.1

No data

Variant related genes	Relation type
ENSG00000253500	TF binding region

Extended variants
information (count: 349 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:349 , 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	rs10108175	chr8:88762919-88762920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116825713	chr8:88762927-88762928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576863444	chr8:88762938-88762939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2174857	chr8:88763002-88763003	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115100112	chr8:88763014-88763015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs574696588	chr8:88763022-88763023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115937621	chr8:88763033-88763034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79346264	chr8:88763070-88763071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs530677379	chr8:88763100-88763101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546017698	chr8:88763132-88763133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs193150334	chr8:88763147-88763148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556007800	chr8:88763216-88763217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541962181	chr8:88763222-88763223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564609799	chr8:88763257-88763258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141707150	chr8:88763327-88763328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547001357	chr8:88763371-88763372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114411303	chr8:88763383-88763384	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs72673117	chr8:88763447-88763448	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552672914	chr8:88763455-88763456	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550822572	chr8:88763485-88763486	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545470183	chr8:88763497-88763498	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539693822	chr8:88763512-88763513	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs557923179	chr8:88763514-88763515	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs184380542	chr8:88763515-88763516	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs9656864	chr8:88763529-88763530	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535233744	chr8:88763530-88763531	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552946928	chr8:88763553-88763554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377742584	chr8:88763556-88763557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557225596	chr8:88763563-88763564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575497791	chr8:88763575-88763576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35719332	chr8:88763598-88763599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111649707	chr8:88763602-88763603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189312124	chr8:88763611-88763612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181151107	chr8:88763628-88763629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150533861	chr8:88763632-88763633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546054366	chr8:88763633-88763634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539710588	chr8:88763639-88763640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374338124	chr8:88763644-88763645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540333640	chr8:88763650-88763651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562123501	chr8:88763684-88763685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529228752	chr8:88763686-88763687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550561041	chr8:88763693-88763694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569252002	chr8:88763773-88763774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533432815	chr8:88763790-88763791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371151726	chr8:88763791-88763792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139467727	chr8:88763799-88763800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112805007	chr8:88763835-88763836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534722470	chr8:88763841-88763842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184264795	chr8:88763846-88763847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147331495	chr8:88763849-88763850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88760000-88763000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:88760000-88766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:88760000-88768000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:88760000-88770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:88762400-88763200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:88762600-88765200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:88763000-88763600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr8:88763200-88763400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr8:88763400-88765000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:88764800-88765000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:88766000-88766600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:88766200-88766400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:88766200-88766400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:88766200-88766600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:88766400-88767400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:88768000-88768200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr8:88769200-88769600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr8:88769600-88771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:88771400-88772000	Enhancers	Fetal Brain Male	brain
20	chr8:88771800-88772200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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