Variant report

Variant	esv1442901
Chromosome Location	chr8:61591088-61591095
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	ARID3A	chr8:61590920-61591120	HepG2	liver:	n/a	n/a
2	BCLAF1	chr8:61590647-61591239	GM12878	blood:	n/a	chr8:61590872-61590881 chr8:61591105-61591114 chr8:61590987-61591000
3	BCLAF1	chr8:61590827-61591194	GM12878	blood:	n/a	chr8:61590872-61590881 chr8:61591105-61591114 chr8:61590987-61591000
4	BHLHE40	chr8:61590963-61591612	GM12878	blood:	n/a	chr8:61590997-61591013 chr8:61591549-61591565 chr8:61590992-61591008
5	BHLHE40	chr8:61591029-61591114	K562	blood:	n/a	n/a
6	BRCA1	chr8:61591024-61591101	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr8:61590709-61593275	K562	blood:	n/a	chr8:61592658-61592667 chr8:61592537-61592546
8	CEBPB	chr8:61590398-61591278	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr8:61591022-61591278	IMR90	lung:	n/a	n/a
10	CEBPB	chr8:61591030-61591201	K562	blood:	n/a	n/a
11	CEBPB	chr8:61590998-61591209	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:61591028-61591229	A549	lung:	n/a	n/a
13	CEBPD	chr8:61590776-61591114	HepG2	liver:	n/a	n/a
14	CHD2	chr8:61590820-61592056	Hela-S3	cervix:	n/a	n/a
15	CREB1	chr8:61590710-61591255	A549	lung:	n/a	chr8:61590907-61590920
16	CREB1	chr8:61590745-61591319	HepG2	liver:	n/a	chr8:61590907-61590920
17	CREB1	chr8:61590915-61591257	GM12878	blood:	n/a	n/a
18	CREB1	chr8:61590950-61591273	K562	blood:	n/a	n/a
19	CTCF	chr8:61590844-61591244	K562	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
20	CTCF	chr8:61590960-61591110	AG04449	skin:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
21	CTCF	chr8:61590969-61591088	GM19238	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
22	CTCF	chr8:61590940-61591090	GM12868	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
23	CTCF	chr8:61590940-61591090	GM12871	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
24	CTCF	chr8:61590940-61591090	HRPEpiC	eye:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
25	CTCF	chr8:61590960-61591110	GM12867	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
26	CTCF	chr8:61590853-61591198	IMR90	lung:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
27	CTCF	chr8:61591000-61591150	GM12875	blood:	n/a	chr8:61591038-61591047
28	CTCF	chr8:61590880-61591096	GM12892	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
29	CTCF	chr8:61590940-61591090	HAc	cerebellar:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
30	CTCF	chr8:61590960-61591110	Hela-S3	cervix:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
31	CTCF	chr8:61590968-61591146	Kidney_OC	kidney:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
32	CTCF	chr8:61591012-61591091	GM10248	blood:	n/a	chr8:61591038-61591047
33	CTCF	chr8:61591000-61591150	HVMF	connective:	n/a	chr8:61591038-61591047
34	CTCF	chr8:61590989-61591095	Lung_OC	lung:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
35	CTCF	chr8:61590980-61591130	HBMEC	blood vessel:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
36	CTCF	chr8:61591030-61591092	MCF-7	breast:	n/a	chr8:61591038-61591047
37	CTCF	chr8:61590940-61591090	GM12870	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
38	CTCF	chr8:61590980-61591130	HCM	heart:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
39	CTCF	chr8:61590980-61591130	HPAF	blood vessel:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
40	CTCF	chr8:61590944-61591141	GM19239	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
41	CTCF	chr8:61590944-61591184	K562	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
42	CTCF	chr8:61590987-61591123	GM12891	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
43	CTCF	chr8:61591000-61591150	GM12865	blood:	n/a	chr8:61591038-61591047
44	CTCF	chr8:61591017-61591115	H1-hESC	embryonic stem cell:	n/a	chr8:61591038-61591047
45	CTCF	chr8:61590790-61591209	Spleen_OC	spleen:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
46	CTCF	chr8:61590904-61591166	Pancreas_OC	pancreas:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
47	CTCF	chr8:61590980-61591130	HMF	breast:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
48	CTCF	chr8:61591020-61591170	SAEC	small airway:	n/a	chr8:61591038-61591047
49	CTCF	chr8:61590950-61591090	GM10266	blood:	n/a	chr8:61591038-61591047 chr8:61590999-61591012
50	CTCF	chr8:61590960-61591137	HepG2	liver:	n/a	chr8:61591038-61591047 chr8:61590999-61591012

No.	Distal block	Cell Line	Cell type
1	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
2	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
3	chr8:61590410..61592571-chr8:61654156..61656255,3	MCF-7	breast:
4	chr2:3605843..3606568-chr8:61590788..61591308,2	Hela-S3	cervix:
5	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
6	chr15:51872226..51872785-chr8:61590656..61591256,2	NB4	blood:
7	chr16:20911706..20912684-chr8:61590659..61591241,2	Hela-S3	cervix:
8	chr8:61590644..61591624-chrX:119737473..119738364,2	Hela-S3	cervix:
9	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
10	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
11	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:

Variant related genes	Relation type
CHD7	TF binding region
ENSG00000188215	chromatin interactions
ENSG00000254869	chromatin interactions
ENSG00000104388	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000251396	chromatin interactions
ENSG00000232119	chromatin interactions
ENSG00000234171	chromatin interactions
ENSG00000171865	chromatin interactions
ENSG00000102897	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 95 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60479293	chr8:61591089-61591090	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
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
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr8:61590000-61593800	Active TSS	HMEC	breast
4	chr8:61590200-61593200	Active TSS	Liver	Liver
5	chr8:61590200-61593600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:61590200-61594200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:61590200-61594200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:61590200-61594800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:61590400-61591400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:61590400-61591600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
11	chr8:61590400-61592200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:61590400-61592400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:61590400-61592600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr8:61590400-61593200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:61590400-61593200	Active TSS	A549	lung
16	chr8:61590400-61593200	Active TSS	K562	blood
17	chr8:61590400-61593400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:61590400-61593400	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr8:61590400-61593400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:61590400-61593400	Active TSS	Aorta	Aorta
21	chr8:61590400-61593400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:61590400-61593400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr8:61590400-61593400	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr8:61590400-61593400	Active TSS	Placenta Amnion	Placenta Amnion
25	chr8:61590400-61593600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:61590400-61593600	Active TSS	Colon Smooth Muscle	Colon
27	chr8:61590400-61593600	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr8:61590400-61593600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:61590400-61593600	Active TSS	Hela-S3	cervix
30	chr8:61590400-61593800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr8:61590400-61593800	Active TSS	Brain Hippocampus Middle	brain
32	chr8:61590400-61593800	Active TSS	Colonic Mucosa	Colon
33	chr8:61590400-61593800	Active TSS	Fetal Intestine Large	intestine
34	chr8:61590400-61593800	Active TSS	Fetal Intestine Small	intestine
35	chr8:61590400-61593800	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:61590400-61593800	Active TSS	GM12878-XiMat	blood
37	chr8:61590400-61593800	Active TSS	HSMMtube	muscle
38	chr8:61590400-61594000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:61590400-61594000	Active TSS	Duodenum Mucosa	Duodenum
40	chr8:61590400-61594000	Active TSS	Psoas Muscle	Psoas
41	chr8:61590400-61594000	Active TSS	Right Atrium	heart
42	chr8:61590400-61594000	Active TSS	Right Ventricle	heart
43	chr8:61590400-61594000	Active TSS	Stomach Smooth Muscle	stomach
44	chr8:61590400-61594000	Active TSS	HSMM	muscle
45	chr8:61590400-61594200	Active TSS	Brain Anterior Caudate	brain
46	chr8:61590400-61594400	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:61590600-61592000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:61590600-61593200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:61590600-61593200	Active TSS	Fetal Kidney	kidney
50	chr8:61590600-61593200	Active TSS	Gastric	stomach

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