Variant report

Variant	esv2764107
Chromosome Location	chr8:89690294-89716151
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	CEBPB	chr8:89711945-89712145	A549	lung:	n/a	chr8:89712111-89712124 chr8:89712039-89712050
2	CEBPB	chr8:89711938-89712232	HepG2	liver:	n/a	chr8:89712111-89712124 chr8:89712039-89712050
3	CEBPB	chr8:89709010-89709387	Hela-S3	cervix:	n/a	chr8:89709182-89709195
4	CEBPB	chr8:89711995-89712182	H1-hESC	embryonic stem cell:	n/a	chr8:89712111-89712124 chr8:89712039-89712050
5	CTCF	chr8:89698359-89698676	K562	blood:	n/a	n/a
6	CTCF	chr8:89697800-89697950	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:89697800-89697950	HEK293	kidney:	n/a	n/a
8	CTCF	chr8:89695869-89695895	Lung_OC	lung:	n/a	n/a
9	CTCF	chr8:89697760-89697910	GM12866	blood:	n/a	n/a
10	CTCF	chr8:89697712-89697827	MCF-7	breast:	n/a	n/a
11	CTCF	chr8:89697780-89697930	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr8:89697780-89697930	HCFaa	heart:	n/a	n/a
13	CTCF	chr8:89697740-89697890	HCT-116	colon:	n/a	n/a
14	CTCF	chr8:89690600-89690750	MCF-7	breast:	n/a	n/a
15	CTCF	chr8:89697706-89697794	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:89697800-89697950	HMF	breast:	n/a	n/a
17	CTCF	chr8:89697720-89697810	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:89697720-89697870	A549	lung:	n/a	n/a
19	CTCF	chr8:89697820-89697970	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:89697720-89697870	HepG2	liver:	n/a	n/a
21	CTCF	chr8:89697740-89697890	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr8:89697760-89697910	HMEC	breast:	n/a	n/a
23	EP300	chr8:89709054-89709364	Hela-S3	cervix:	n/a	chr8:89709329-89709343
24	FOS	chr8:89709059-89709432	HUVEC	blood vessel:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
25	FOS	chr8:89709036-89709349	MCF10A-Er-Src	breast:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
26	FOS	chr8:89709000-89709393	MCF10A-Er-Src	breast:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
27	FOS	chr8:89709030-89709385	MCF10A-Er-Src	breast:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
28	FOS	chr8:89709035-89709566	MCF10A-Er-Src	breast:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
29	FOXA1	chr8:89697715-89697992	T-47D	breast:	n/a	n/a
30	FOXA1	chr8:89698264-89698409	T-47D	breast:	n/a	n/a
31	FOXA1	chr8:89698262-89698448	HepG2	liver:	n/a	n/a
32	FOXA2	chr8:89698051-89698600	A549	lung:	n/a	n/a
33	FOXA2	chr8:89698275-89698517	A549	lung:	n/a	n/a
34	JUN	chr8:89709013-89709361	Hela-S3	cervix:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
35	JUN	chr8:89709010-89709379	HUVEC	blood vessel:	n/a	chr8:89709200-89709208 chr8:89709200-89709207
36	MAFK	chr8:89714382-89714536	HepG2	liver:	n/a	n/a
37	MYC	chr8:89709081-89709243	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr8:89715098-89715189	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:89709085-89709285	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr8:89709198-89709335	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr8:89710228-89710428	MCF10A-Er-Src	breast:	n/a	n/a
42	RAD21	chr8:89697656-89697982	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr8:89697768-89697935	H1-hESC	embryonic stem cell:	n/a	n/a
44	RCOR1	chr8:89708126-89708215	K562	blood:	n/a	n/a
45	RFX5	chr8:89691949-89691990	K562	blood:	n/a	n/a
46	SETDB1	chr8:89697621-89698011	U2OS	brain:	n/a	n/a
47	SETDB1	chr8:89707249-89707744	U2OS	brain:	n/a	n/a
48	STAT3	chr8:89696440-89696585	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr8:89706619-89707084	MCF10A-Er-Src	breast:	n/a	n/a
50	WRNIP1	chr8:89708885-89709020	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:89713917..89716858-chr8:89717587..89721325,3	K562	blood:
2	chr8:89690069..89691649-chr8:89726011..89728542,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNBD1-4	chr8:89712520-89712578	ENSG00000253553.1
2	lnc-CNBD1-4	chr8:89712521-89712578	ENSG00000253553.1

Variant related genes	Relation type
ENSG00000253553	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571849914	chr8:89690297-89690298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539135241	chr8:89690313-89690314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74671060	chr8:89690345-89690346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141503828	chr8:89690395-89690396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114334645	chr8:89690449-89690450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184677327	chr8:89690473-89690474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536657943	chr8:89690535-89690536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555034383	chr8:89690602-89690603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576358552	chr8:89690613-89690614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537595796	chr8:89690633-89690634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558743614	chr8:89690649-89690650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188777573	chr8:89690650-89690651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544849115	chr8:89690663-89690664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538094257	chr8:89690688-89690689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75215110	chr8:89690699-89690700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572043451	chr8:89690700-89690701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571614735	chr8:89690715-89690716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73300357	chr8:89690721-89690722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560595652	chr8:89690760-89690761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531198739	chr8:89690765-89690766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543512276	chr8:89690849-89690850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564778827	chr8:89690903-89690904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565914088	chr8:89690932-89690933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374572785	chr8:89690947-89690948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150851654	chr8:89690985-89690986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547973819	chr8:89690991-89690992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74584457	chr8:89691016-89691017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139304804	chr8:89691018-89691019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548892792	chr8:89691027-89691028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570043421	chr8:89691063-89691064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572074497	chr8:89691068-89691069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537001940	chr8:89691099-89691100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147662739	chr8:89691119-89691120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570823483	chr8:89691169-89691170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191849549	chr8:89691185-89691186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117048996	chr8:89691271-89691272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571906442	chr8:89691286-89691287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543278565	chr8:89691291-89691292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554526686	chr8:89691306-89691307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371935894	chr8:89691370-89691371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192227412	chr8:89693248-89693249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562973404	chr8:89693258-89693259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530637431	chr8:89693292-89693293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7009328	chr8:89693331-89693332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138990163	chr8:89693363-89693364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80354705	chr8:89693388-89693389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370044382	chr8:89693446-89693447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553059251	chr8:89693550-89693551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144781074	chr8:89693596-89693597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546907656	chr8:89693614-89693615	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89685400-89690600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:89688800-89690600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:89690200-89691000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:89690600-89690800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:89690600-89691000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:89690600-89691400	Enhancers	Fetal Heart	heart
7	chr8:89690600-89691400	Enhancers	Fetal Lung	lung
8	chr8:89693200-89693400	Enhancers	Fetal Lung	lung
9	chr8:89693200-89693600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:89693200-89693800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:89693200-89694200	Enhancers	Adipose Nuclei	Adipose
12	chr8:89693400-89693800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:89693600-89693800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:89693800-89694200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:89697800-89698000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr8:89697800-89698400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:89708000-89708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:89708400-89709600	Enhancers	NH-A	brain
19	chr8:89708400-89709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:89708400-89709800	Enhancers	Adipose Nuclei	Adipose
21	chr8:89708600-89709000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:89708600-89710000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:89708600-89710200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:89708600-89710200	Enhancers	HUVEC	blood vessel
25	chr8:89709000-89709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:89709800-89710000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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