Variant report

Variant	esv3335918
Chromosome Location	chr8:35944459-35979115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
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	BACH1	chr8:35973723-35973757	K562	blood:	n/a	n/a
2	BATF	chr8:35952817-35953061	GM12878	blood:	n/a	chr8:35952957-35952968
3	CEBPB	chr8:35974568-35974770	HepG2	liver:	n/a	chr8:35974699-35974710
4	CEBPB	chr8:35963198-35963200	A549	lung:	n/a	n/a
5	CTCF	chr8:35945996-35946016	GM20000	blood:	n/a	n/a
6	CTCF	chr8:35974513-35974563	GM10248	blood:	n/a	n/a
7	CTCF	chr8:35950834-35950907	Fibrobl	skin:	n/a	n/a
8	E2F4	chr8:35976447-35977005	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr8:35957394-35958124	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr8:35969722-35969769	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:35976682-35976882	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr8:35965634-35965655	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:35969764-35969796	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr8:35969645-35969798	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr8:35951323-35951749	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr8:35956722-35956984	SH-SY5Y	brain:	n/a	chr8:35956919-35956929
17	KAP1	chr8:35972481-35973114	K562	blood:	n/a	n/a
18	MAFF	chr8:35966570-35966860	HepG2	liver:	n/a	n/a
19	MAFF	chr8:35972613-35972817	HepG2	liver:	n/a	chr8:35972710-35972728
20	MAFK	chr8:35966551-35966890	HepG2	liver:	n/a	n/a
21	MAFK	chr8:35972582-35972879	HepG2	liver:	n/a	chr8:35972711-35972726
22	MAFK	chr8:35972561-35972887	HepG2	liver:	n/a	chr8:35972711-35972726
23	MAFK	chr8:35972573-35972852	IMR90	lung:	n/a	chr8:35972711-35972726
24	MAFK	chr8:35967831-35968104	HepG2	liver:	n/a	chr8:35967950-35967965
25	MAFK	chr8:35978392-35978427	HepG2	liver:	n/a	n/a
26	MAFK	chr8:35948527-35948761	HepG2	liver:	n/a	n/a
27	MAFK	chr8:35966556-35966896	HepG2	liver:	n/a	n/a
28	MAFK	chr8:35967820-35968051	HepG2	liver:	n/a	chr8:35967950-35967965
29	NFYB	chr8:35952654-35952918	GM12878	blood:	n/a	chr8:35952814-35952829 chr8:35952814-35952828 chr8:35952814-35952829 chr8:35952837-35952847 chr8:35952816-35952826 chr8:35952835-35952850 chr8:35952814-35952827
30	POLR2A	chr8:35965322-35965331	IMR90	lung:	n/a	n/a
31	POLR2A	chr8:35974720-35975123	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:35966686-35966693	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:35949538-35949587	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr8:35979077-35979094	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:35966628-35966646	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:35965947-35965961	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:35965277-35965650	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr8:35971217-35971326	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:35954957-35955357	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr8:35949799-35950154	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr8:35976909-35976963	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr8:35960943-35960974	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr8:35966390-35966548	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr8:35957418-35957631	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr8:35952810-35953026	GM12878	blood:	n/a	n/a
46	ZNF143	chr8:35946431-35946457	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:35979108-35979158	BE2_C	brain:	n/a
2	chr8:35979033-35979083	NHDF-neo	bronchial:	n/a
3	chr8:35979033-35979083	NB4	blood:	n/a
4	chr8:35979108-35979158	PFSK-1	brain:	n/a
5	chr8:35979108-35979158	AoSMC	blood vessel:	n/a
6	chr8:35979108-35979158	NT2-D1	testis:	n/a
7	chr8:35979033-35979083	Hepatocyte	liver:	n/a
8	chr8:35979033-35979083	AG04449	skin:	fetal
9	chr8:35979108-35979158	CMK	blood:	n/a
10	chr8:35979033-35979083	AoSMC	blood vessel:	n/a
11	chr8:35979033-35979083	NHBE	bronchial:	n/a
12	chr8:35979033-35979083	Caco-2	colon:	n/a
13	chr8:35979033-35979083	HCM	heart:	n/a
14	chr8:35979108-35979158	IMR90	lung:	fetal
15	chr8:35979033-35979083	PrEC	prostate:	n/a
16	chr8:35979033-35979083	GM06990	blood:	n/a
17	chr8:35979033-35979083	HUVEC	blood vessel:	n/a
18	chr8:35979108-35979158	HEEpiC	esophagus:	n/a
19	chr8:35979033-35979083	T-47D	breast:	n/a
20	chr8:35979108-35979158	AG09319	gingival:	n/a
21	chr8:35979108-35979158	HRPEpiC	eye:	n/a
22	chr8:35979108-35979158	HEK293	kidney:	embryo
23	chr8:35979108-35979158	SK-N-SH	brain:	n/a
24	chr8:35979033-35979083	Hela-S3	cervix:	n/a
25	chr8:35979108-35979158	HL-60	blood:	n/a
26	chr8:35979033-35979083	MCF10A-Er-Src	breast:	n/a
27	chr8:35979108-35979158	Jurkat	blood:	n/a
28	chr8:35979108-35979158	H1-hESC	embryonic stem cell:	embryo
29	chr8:35979033-35979083	HRPEpiC	eye:	n/a
30	chr8:35979108-35979158	U87	brain:	n/a
31	chr8:35979108-35979158	NB4	blood:	n/a
32	chr8:35979033-35979083	HEEpiC	esophagus:	n/a
33	chr8:35979108-35979158	Caco-2	colon:	n/a
34	chr8:35979033-35979083	U87	brain:	n/a
35	chr8:35979108-35979158	HPAEpiC	pulmonary alveolar:	n/a
36	chr8:35979108-35979158	HCM	heart:	n/a
37	chr8:35979108-35979158	ovcar-3	ovarian:	n/a
38	chr8:35979033-35979083	GM12891	blood:	n/a
39	chr8:35979108-35979158	HCF	heart:	n/a
40	chr8:35979108-35979158	BJ	skin:	n/a
41	chr8:35979033-35979083	HCPEpiC	choroid plexus:	n/a
42	chr8:35979108-35979158	PANC-1	pancreas:	n/a
43	chr8:35979033-35979083	Jurkat	blood:	n/a
44	chr8:35979108-35979158	MCF-7	breast:	n/a
45	chr8:35979033-35979083	ECC-1	luminal epithelium:	n/a
46	chr8:35979033-35979083	AG09309	skin:	n/a
47	chr8:35979108-35979158	K562	blood:	n/a
48	chr8:35979033-35979083	H1-hESC	embryonic stem cell:	embryo
49	chr8:35979033-35979083	HRE	kidney:	n/a
50	chr8:35979033-35979083	PANC-1	pancreas:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-419C23.1.1-4	chr8:35952530-35952564	ENSG00000253524
2	lnc-RP11-419C23.1.1-4	chr8:35951496-35951527	ENSG00000253524
3	lnc-RP11-419C23.1.1-12	chr8:35978916-35979201	NONHSAT126010
4	lnc-RP11-419C23.1.1-4	chr8:35951496-35951543	ENSG00000253524

No data

Variant related genes	Relation type
ENSG00000253524	TF binding region
ENSG00000253524	CpG island

Extended variants
information (count: 545 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557732081	chr8:35944463-35944464	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2464379	chr8:35944475-35944476	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117628646	chr8:35944476-35944477	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527986804	chr8:35944487-35944488	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552931931	chr8:35944488-35944489	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538221779	chr8:35944533-35944534	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542328042	chr8:35944543-35944544	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563937061	chr8:35944558-35944559	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530986191	chr8:35944641-35944642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200876146	chr8:35944648-35944649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201242951	chr8:35944649-35944650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564586078	chr8:35944653-35944654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10097615	chr8:35944710-35944711	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546226844	chr8:35944720-35944721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567701001	chr8:35944762-35944763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112736129	chr8:35944794-35944795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372915162	chr8:35944853-35944854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531711168	chr8:35944901-35944902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs137888793	chr8:35944931-35944932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs117520687	chr8:35944937-35944938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181568444	chr8:35944993-35944994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558034996	chr8:35945040-35945041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573102293	chr8:35945071-35945072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs186335119	chr8:35945099-35945100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528802105	chr8:35945109-35945110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553438719	chr8:35945162-35945163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574865184	chr8:35945163-35945164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542366676	chr8:35945198-35945199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563600653	chr8:35945216-35945217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76408025	chr8:35945281-35945282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189950599	chr8:35945294-35945295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556618532	chr8:35945329-35945330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs377099524	chr8:35945349-35945350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2702486	chr8:35945354-35945355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547274187	chr8:35945378-35945379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs115728373	chr8:35945386-35945387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182202054	chr8:35945410-35945411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561367650	chr8:35945412-35945413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186479980	chr8:35945433-35945434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550660189	chr8:35945448-35945449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568812414	chr8:35945548-35945549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539518190	chr8:35945550-35945551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547277420	chr8:35945565-35945566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143436121	chr8:35945577-35945578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571636396	chr8:35945627-35945628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376263414	chr8:35945719-35945720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555675423	chr8:35945735-35945736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147159396	chr8:35945758-35945759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74302854	chr8:35945759-35945760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532428717	chr8:35945806-35945807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35941200-35949200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:35944200-35944600	Enhancers	Duodenum Mucosa	Duodenum
3	chr8:35949200-35949400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:35949200-35950400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:35949400-35949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:35949600-35950600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:35949800-35950200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:35949800-35950200	Enhancers	Fetal Brain Male	brain
9	chr8:35949800-35950600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:35949800-35951400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:35950000-35950400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr8:35950200-35951200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:35950600-35951000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:35951000-35951800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:35951200-35954600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:35954200-35954400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:35966200-35966600	Enhancers	Colon Smooth Muscle	Colon
18	chr8:35967000-35968600	Enhancers	Liver	Liver
19	chr8:35968600-35968800	Flanking Active TSS	Liver	Liver
20	chr8:35968800-35969000	Enhancers	Liver	Liver
21	chr8:35969000-35969200	Flanking Active TSS	Liver	Liver
22	chr8:35969200-35970000	Enhancers	Liver	Liver

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