Variant report

Variant	esv2761417
Chromosome Location	chr8:20523767-20669443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:308)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:20660725-20660925	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:20571770-20571780	K562	blood:	n/a	n/a
3	BATF	chr8:20639527-20639740	GM12878	blood:	n/a	n/a
4	CEBPB	chr8:20553462-20553479	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:20625745-20625945	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr8:20625746-20626015	HepG2	liver:	n/a	n/a
7	CEBPB	chr8:20612890-20613090	HepG2	liver:	n/a	chr8:20612994-20613005
8	CEBPB	chr8:20552362-20552483	K562	blood:	n/a	n/a
9	CEBPB	chr8:20560685-20560861	K562	blood:	n/a	n/a
10	CEBPB	chr8:20612901-20613105	IMR90	lung:	n/a	chr8:20612994-20613005
11	CTCF	chr8:20647300-20647450	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr8:20647260-20647410	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr8:20600760-20600910	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr8:20562277-20562393	MCF-7	breast:	n/a	n/a
15	CTCF	chr8:20647311-20647425	LNCaP	prostate:	n/a	n/a
16	CTCF	chr8:20587920-20588070	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr8:20647176-20647482	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:20574820-20574970	HEK293	kidney:	n/a	chr8:20574863-20574884 chr8:20574868-20574886
19	CTCF	chr8:20647197-20647553	K562	blood:	n/a	n/a
20	CTCF	chr8:20574863-20574917	K562	blood:	n/a	chr8:20574863-20574884 chr8:20574868-20574886
21	CTCF	chr8:20562289-20562358	K562	blood:	n/a	n/a
22	CTCF	chr8:20647283-20647464	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:20647072-20647534	K562	blood:	n/a	n/a
24	CTCF	chr8:20573771-20573841	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:20647329-20647417	LNCaP	prostate:	n/a	n/a
26	CTCF	chr8:20647372-20647399	ProgFib	skin:	n/a	n/a
27	CTCF	chr8:20574860-20575010	HRE	kidney:	n/a	chr8:20574863-20574884 chr8:20574868-20574886
28	CTCF	chr8:20610853-20610904	GM13977	blood:	n/a	n/a
29	CTCF	chr8:20647135-20647528	HepG2	liver:	n/a	n/a
30	CTCF	chr8:20574840-20574990	WERI-Rb-1	eye:	n/a	chr8:20574863-20574884 chr8:20574868-20574886
31	CTCF	chr8:20647275-20647455	HepG2	liver:	n/a	n/a
32	CTCF	chr8:20647240-20647390	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr8:20574896-20574921	GM19238	blood:	n/a	n/a
34	CTCF	chr8:20525860-20526010	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr8:20647300-20647450	A549	lung:	n/a	n/a
36	CTCF	chr8:20647181-20647499	K562	blood:	n/a	n/a
37	CTCF	chr8:20647320-20647470	GM12872	blood:	n/a	n/a
38	CTCF	chr8:20580000-20580040	Fibrobl	skin:	n/a	n/a
39	CTCF	chr8:20647250-20647465	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:20647167-20647541	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr8:20647260-20647410	BE2_C	brain:	n/a	n/a
42	CTCF	chr8:20647280-20647430	HVMF	connective:	n/a	n/a
43	CTCF	chr8:20554320-20554470	GM12872	blood:	n/a	n/a
44	CTCF	chr8:20647223-20647486	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr8:20647329-20647419	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr8:20574925-20574929	GM19238	blood:	n/a	n/a
47	CTCF	chr8:20647230-20647467	HepG2	liver:	n/a	n/a
48	CTCF	chr8:20647280-20647430	HRE	kidney:	n/a	n/a
49	CTCF	chr8:20647362-20647368	ProgFib	skin:	n/a	n/a
50	CTCF	chr8:20647280-20647430	HBMEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20292679..20293278-chr8:20647078..20647630,2	MCF-7	breast:
2	chr8:20520713..20522774-chr8:20526759..20528349,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-8	chr8:20628026-20628101	NONHSAT125403
2	lnc-ATP6V1B2-8	chr8:20622616-20623335	FPKM1_group_30976_transcript_3
3	lnc-LZTS1-1	chr8:20557261-20557645	ENSG00000253300
4	lnc-ATP6V1B2-8	chr8:20622616-20623335	NONHSAT125403
5	lnc-LZTS1-1	chr8:20525349-20525547	ENSG00000253300
6	lnc-ATP6V1B2-8	chr8:20623157-20623232	FPKM1_group_30976_transcript_3
7	lnc-LZTS1-1	chr8:20557261-20557455	ENSG00000253300

No data

Variant related genes	Relation type
ENSG00000253300	TF binding region

Extended variants
information (count: 4009 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:4009 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17421098	chr8:20525371-20525372	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185239637	chr8:20525395-20525396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs17092933	chr8:20525420-20525421	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150474058	chr8:20525421-20525422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561855677	chr8:20525441-20525442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs73224068	chr8:20525453-20525454	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547416117	chr8:20525471-20525472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs565824882	chr8:20525476-20525477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576225459	chr8:20525481-20525482	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs138339338	chr8:20525496-20525497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs551133561	chr8:20525504-20525505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs543938036	chr8:20525530-20525531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs371048485	chr8:20527822-20527823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75725381	chr8:20527831-20527832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111922313	chr8:20527844-20527845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554520018	chr8:20527845-20527846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566460895	chr8:20527851-20527852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201174619	chr8:20527853-20527854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201876408	chr8:20527854-20527855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398112294	chr8:20527856-20527857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375343201	chr8:20527857-20527858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72132495	chr8:20527867-20527868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35333466	chr8:20527869-20527870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28618336	chr8:20527890-20527891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543248959	chr8:20527915-20527916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577251169	chr8:20527932-20527933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141092807	chr8:20527944-20527945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531556592	chr8:20528009-20528010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189512033	chr8:20528024-20528025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17092939	chr8:20528040-20528041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116066188	chr8:20528065-20528066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180672572	chr8:20528071-20528072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568549649	chr8:20528078-20528079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78956678	chr8:20528082-20528083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545836472	chr8:20528142-20528143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28501504	chr8:20528166-20528167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531890888	chr8:20528168-20528169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71512776	chr8:20528175-20528176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186029767	chr8:20528190-20528191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562165192	chr8:20528200-20528201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113658922	chr8:20528202-20528203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189701338	chr8:20528246-20528247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566618819	chr8:20528278-20528279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529408030	chr8:20528326-20528327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552211741	chr8:20528362-20528363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570714609	chr8:20528421-20528422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181413405	chr8:20528424-20528425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556290628	chr8:20528447-20528448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371799622	chr8:20528463-20528464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574533134	chr8:20528467-20528468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	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
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20527800-20528000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20528000-20535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:20528800-20529400	Enhancers	Brain Germinal Matrix	brain
4	chr8:20529400-20529600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:20530600-20531200	ZNF genes & repeats	Liver	Liver
6	chr8:20531200-20535400	Weak transcription	Liver	Liver
7	chr8:20531200-20535600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:20531400-20532200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:20532200-20533800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:20533800-20537000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:20534000-20534800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr8:20534000-20536200	Enhancers	Colonic Mucosa	Colon
13	chr8:20534400-20534600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:20534600-20535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:20534800-20535000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr8:20534800-20536200	Enhancers	Fetal Kidney	kidney
17	chr8:20535000-20535200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:20535000-20535400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr8:20535000-20536400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr8:20535400-20536400	Enhancers	Liver	Liver
21	chr8:20535600-20536200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:20535800-20536200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:20536000-20536400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr8:20536200-20537200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:20536400-20536600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:20536600-20537000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:20537000-20537800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:20538000-20538200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:20540600-20557000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:20547000-20547800	Enhancers	Fetal Brain Female	brain
31	chr8:20547200-20547600	Enhancers	Fetal Brain Male	brain
32	chr8:20547200-20547800	Enhancers	Brain Germinal Matrix	brain
33	chr8:20547800-20551000	Weak transcription	Brain Germinal Matrix	brain
34	chr8:20549800-20550000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:20549800-20550400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:20549800-20551000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:20550000-20551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:20550000-20551200	Enhancers	Primary T cells from cord blood	blood
39	chr8:20550200-20550400	Enhancers	Fetal Kidney	kidney
40	chr8:20550400-20550800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr8:20550400-20551000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:20550400-20551000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:20550400-20551200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:20550400-20551200	Weak transcription	Fetal Kidney	kidney
45	chr8:20550600-20551200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:20550600-20552000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:20550800-20551000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:20551000-20551200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr8:20551000-20552000	Enhancers	Brain Germinal Matrix	brain
50	chr8:20551200-20551400	Enhancers	Fetal Kidney	kidney

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