Variant report

Variant	esv1830601
Chromosome Location	chr8:1184708-1199054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:855)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr8:1197352-1197554	GM12878	blood:	n/a	n/a
2	CBX3	chr8:1185061-1185573	K562	blood:	n/a	n/a
3	CEBPB	chr8:1184618-1184904	HepG2	liver:	n/a	chr8:1184776-1184785 chr8:1184776-1184785 chr8:1184774-1184787 chr8:1184776-1184785 chr8:1184776-1184785
4	CEBPB	chr8:1184614-1184935	K562	blood:	n/a	chr8:1184776-1184785 chr8:1184776-1184785 chr8:1184774-1184787 chr8:1184776-1184785 chr8:1184776-1184785
5	CEBPB	chr8:1184659-1184887	H1-hESC	embryonic stem cell:	n/a	chr8:1184776-1184785 chr8:1184776-1184785 chr8:1184774-1184787 chr8:1184776-1184785 chr8:1184776-1184785
6	CEBPB	chr8:1184686-1184877	K562	blood:	n/a	chr8:1184776-1184785 chr8:1184776-1184785 chr8:1184774-1184787 chr8:1184776-1184785 chr8:1184776-1184785
7	CTCF	chr8:1197077-1197111	LNCaP	prostate:	n/a	n/a
8	CTCF	chr8:1197078-1197088	GM19239	blood:	n/a	n/a
9	E2F6	chr8:1185233-1185503	K562	blood:	n/a	n/a
10	E2F6	chr8:1184777-1185591	K562	blood:	n/a	chr8:1184899-1184910
11	E2F6	chr8:1184956-1185482	K562	blood:	n/a	n/a
12	GATA3	chr8:1194453-1194653	SH-SY5Y	brain:	n/a	n/a
13	MAX	chr8:1185205-1185493	A549	lung:	n/a	n/a
14	MAX	chr8:1185217-1185412	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr8:1185118-1185612	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr8:1184707-1185568	K562	blood:	n/a	chr8:1184895-1184904 chr8:1184894-1184905
17	MAX	chr8:1185143-1185487	K562	blood:	n/a	n/a
18	MAX	chr8:1185058-1185551	ECC-1	luminal epithelium:	n/a	n/a
19	MYC	chr8:1197004-1197047	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr8:1185404-1185600	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr8:1197055-1197188	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr8:1197038-1197106	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:1196859-1197069	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:1185319-1185406	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:1196796-1196829	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:1197053-1197073	A549	lung:	n/a	n/a
27	POLR2A	chr8:1196853-1197288	MCF-7	breast:	n/a	n/a
28	POLR2A	chr8:1197016-1197138	Gliobla	brain:	n/a	n/a
29	POLR2A	chr8:1185323-1185454	Gliobla	brain:	n/a	n/a
30	POLR2A	chr8:1197053-1197057	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:1185282-1185289	MCF-7	breast:	n/a	n/a
32	SETDB1	chr8:1196951-1197403	U2OS	brain:	n/a	n/a
33	SIX5	chr8:1198183-1198460	K562	blood:	n/a	n/a
34	ZNF143	chr8:1194936-1195026	H1-hESC	embryonic stem cell:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1197144-1197194	CMK	blood:	n/a
2	chr8:1197144-1197194	CMK	blood:	n/a
3	chr8:1185471-1185521	AG09319	gingival:	n/a
4	chr8:1197488-1197538	SK-N-MC	brain:	n/a
5	chr8:1185355-1185405	ovcar-3	ovarian:	n/a
6	chr8:1191278-1191328	HL-60	blood:	n/a
7	chr8:1185355-1185405	HIPEpiC	eye:	n/a
8	chr8:1197488-1197538	HCT-116	colon:	n/a
9	chr8:1197488-1197538	T-47D	breast:	n/a
10	chr8:1185252-1185302	U87	brain:	n/a
11	chr8:1197144-1197194	AG04450	lung:	fetal
12	chr8:1189684-1189734	AG04449	skin:	fetal
13	chr8:1198181-1198231	HEEpiC	esophagus:	n/a
14	chr8:1188320-1188370	GM19239	blood:	n/a
15	chr8:1198327-1198377	HCPEpiC	choroid plexus:	n/a
16	chr8:1185252-1185302	HAEpiC	amniotic membrane:	n/a
17	chr8:1198327-1198377	PANC-1	pancreas:	n/a
18	chr8:1197231-1197281	GM12891	blood:	n/a
19	chr8:1197488-1197538	HUVEC	blood vessel:	n/a
20	chr8:1189684-1189734	HL-60	blood:	n/a
21	chr8:1185471-1185521	PFSK-1	brain:	n/a
22	chr8:1197144-1197194	AG04449	skin:	fetal
23	chr8:1189684-1189734	ECC-1	luminal epithelium:	n/a
24	chr8:1185252-1185302	HCT-116	colon:	n/a
25	chr8:1185252-1185302	HRE	kidney:	n/a
26	chr8:1197231-1197281	Hela-S3	cervix:	n/a
27	chr8:1185201-1185251	HEK293	kidney:	embryo
28	chr8:1185355-1185405	U87	brain:	n/a
29	chr8:1185497-1185547	HepG2	liver:	n/a
30	chr8:1188320-1188370	H1-hESC	embryonic stem cell:	embryo
31	chr8:1197144-1197194	GM12892	blood:	n/a
32	chr8:1185471-1185521	NHBE	bronchial:	n/a
33	chr8:1191278-1191328	AG04449	skin:	fetal
34	chr8:1197231-1197281	BJ	skin:	n/a
35	chr8:1197488-1197538	PANC-1	pancreas:	n/a
36	chr8:1198181-1198231	ECC-1	luminal epithelium:	n/a
37	chr8:1198327-1198377	HNPCEpiC	eye:	n/a
38	chr8:1185471-1185521	HRCEpiC	kidney:	n/a
39	chr8:1197144-1197194	NHDF-neo	bronchial:	n/a
40	chr8:1188320-1188370	IMR90	lung:	fetal
41	chr8:1197231-1197281	CMK	blood:	n/a
42	chr8:1187659-1187709	HMEC	breast:	n/a
43	chr8:1197488-1197538	RPTEC	kidney:	n/a
44	chr8:1185471-1185521	RPTEC	kidney:	n/a
45	chr8:1191278-1191328	HepG2	liver:	n/a
46	chr8:1185355-1185405	HCPEpiC	choroid plexus:	n/a
47	chr8:1198327-1198377	SK-N-SH	brain:	n/a
48	chr8:1188320-1188370	AG04450	lung:	fetal
49	chr8:1198181-1198231	AG10803	skin:	n/a
50	chr8:1189684-1189734	CMK	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP2-7	chr8:1197062-1197215	l_3529_chr8:1197061-1199999_testes

No data

Variant related genes	Relation type
ENSG00000254269	TF binding region
ENSG00000254160	TF binding region
ENSG00000254269	CpG island
ENSG00000254160	CpG island

Extended variants
information (count: 637 )
Associated
traits (count: 113 )

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	rs376304552	chr8:1184710-1184711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374678503	chr8:1184715-1184716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12680051	chr8:1184781-1184782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576176339	chr8:1184795-1184796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73529841	chr8:1184808-1184809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113213093	chr8:1184828-1184829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146136642	chr8:1184831-1184832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188005096	chr8:1184845-1184846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117645512	chr8:1184846-1184847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545407636	chr8:1184852-1184853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62486950	chr8:1184861-1184862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112653697	chr8:1184875-1184876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542492199	chr8:1184876-1184877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562208337	chr8:1184887-1184888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367578482	chr8:1184912-1184913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180923796	chr8:1184914-1184915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34144100	chr8:1184917-1184918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544768560	chr8:1184921-1184922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372755642	chr8:1184923-1184924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564580395	chr8:1184928-1184929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533456266	chr8:1184935-1184936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546724549	chr8:1184943-1184944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138365599	chr8:1184989-1184990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71188802	chr8:1184990-1184991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7003056	chr8:1184998-1184999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6985686	chr8:1185006-1185007	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73186544	chr8:1185008-1185009	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs67693232	chr8:1185015-1185016	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371109120	chr8:1185016-1185017	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375058503	chr8:1185017-1185018	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs368029048	chr8:1185018-1185019	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs75679697	chr8:1185025-1185026	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117661337	chr8:1185045-1185046	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117688406	chr8:1185048-1185049	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112175650	chr8:1185060-1185061	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567988542	chr8:1185061-1185062	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11780240	chr8:1185067-1185068	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11136365	chr8:1185081-1185082	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11136366	chr8:1185085-1185086	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111512516	chr8:1185094-1185095	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11136367	chr8:1185095-1185096	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs542447930	chr8:1185096-1185097	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11783425	chr8:1185097-1185098	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550323387	chr8:1185107-1185108	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570255709	chr8:1185111-1185112	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370966871	chr8:1185112-1185113	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs539121993	chr8:1185120-1185121	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs116559434	chr8:1185122-1185123	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12680136	chr8:1185124-1185125	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs117884650	chr8:1185143-1185144	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1184000-1185600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:1185000-1185600	ZNF genes & repeats	Pancreas	Pancrea
3	chr8:1192600-1193000	Enhancers	Gastric	stomach
4	chr8:1192600-1193000	Enhancers	Spleen	Spleen
5	chr8:1193200-1193400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:1195200-1197200	Enhancers	Fetal Brain Male	brain
7	chr8:1196800-1197200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:1196800-1197200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
9	chr8:1196800-1197400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:1196800-1197400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:1196800-1197400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr8:1197000-1197200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:1197000-1197200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr8:1197000-1197200	ZNF genes & repeats	Gastric	stomach
15	chr8:1197000-1197200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
16	chr8:1197000-1197400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr8:1197000-1197400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:1197000-1197400	ZNF genes & repeats	Pancreas	Pancrea
19	chr8:1197200-1198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:1197200-1199200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:1197200-1201800	Weak transcription	Gastric	stomach
22	chr8:1197400-1201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:1197400-1202000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:1197400-1202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:1198600-1199200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:1199000-1201600	Weak transcription	Pancreas	Pancrea

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