Variant report

Variant	esv2422219
Chromosome Location	chr3:21064893-21220097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:371)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:21174936-21175053	K562	blood:	n/a	n/a
2	ATF1	chr3:21068871-21069019	K562	blood:	n/a	n/a
3	BACH1	chr3:21190793-21191040	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr3:21194098-21194329	GM12878	blood:	n/a	n/a
5	BATF	chr3:21201055-21201284	GM12878	blood:	n/a	chr3:21201159-21201170
6	BATF	chr3:21194072-21194305	GM12878	blood:	n/a	n/a
7	BHLHE40	chr3:21084924-21084951	K562	blood:	n/a	n/a
8	BHLHE40	chr3:21159378-21159417	K562	blood:	n/a	n/a
9	CCNT2	chr3:21073170-21073370	K562	blood:	n/a	n/a
10	CCNT2	chr3:21119156-21119258	K562	blood:	n/a	n/a
11	CEBPB	chr3:21183980-21184119	A549	lung:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
12	CEBPB	chr3:21078426-21078702	HepG2	liver:	n/a	chr3:21078558-21078569
13	CEBPB	chr3:21083135-21083500	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr3:21126029-21126290	K562	blood:	n/a	chr3:21126144-21126155
15	CEBPB	chr3:21164447-21164713	A549	lung:	n/a	chr3:21164567-21164578 chr3:21164606-21164617
16	CEBPB	chr3:21075107-21075111	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr3:21183910-21184219	K562	blood:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
18	CEBPB	chr3:21218651-21218851	HepG2	liver:	n/a	chr3:21218750-21218761
19	CEBPB	chr3:21075015-21075270	A549	lung:	n/a	chr3:21075142-21075153
20	CEBPB	chr3:21075844-21075985	A549	lung:	n/a	n/a
21	CEBPB	chr3:21125988-21126321	IMR90	lung:	n/a	chr3:21126144-21126155
22	CEBPB	chr3:21125984-21126294	HepG2	liver:	n/a	chr3:21126144-21126155
23	CEBPB	chr3:21183926-21184131	K562	blood:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
24	CEBPB	chr3:21183929-21184180	HepG2	liver:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
25	CEBPB	chr3:21164426-21164631	HepG2	liver:	n/a	chr3:21164567-21164578 chr3:21164606-21164617
26	CEBPB	chr3:21074993-21075295	HepG2	liver:	n/a	chr3:21075142-21075153
27	CEBPB	chr3:21108530-21108777	A549	lung:	n/a	n/a
28	CEBPB	chr3:21078417-21078675	K562	blood:	n/a	chr3:21078558-21078569
29	CEBPB	chr3:21074983-21075302	IMR90	lung:	n/a	chr3:21075142-21075153
30	CEBPB	chr3:21074999-21075313	K562	blood:	n/a	chr3:21075142-21075153
31	CEBPB	chr3:21183893-21184180	IMR90	lung:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
32	CEBPB	chr3:21126025-21126248	A549	lung:	n/a	chr3:21126144-21126155
33	CHD1	chr3:21187707-21187761	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr3:21194221-21194308	GM12878	blood:	n/a	n/a
35	CTCF	chr3:21212505-21212747	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr3:21212620-21212770	GM12872	blood:	n/a	n/a
37	CTCF	chr3:21212560-21212710	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr3:21212596-21212740	HepG2	liver:	n/a	n/a
39	CTCF	chr3:21212600-21212750	HL-60	blood:	n/a	n/a
40	CTCF	chr3:21212600-21212750	GM12864	blood:	n/a	n/a
41	CTCF	chr3:21212600-21212750	GM12865	blood:	n/a	n/a
42	CTCF	chr3:21212580-21212730	GM12871	blood:	n/a	n/a
43	CTCF	chr3:21212560-21212710	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:21212600-21212750	AG04450	lung:	n/a	n/a
45	CTCF	chr3:21184557-21184615	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:21212600-21212750	HAc	cerebellar:	n/a	n/a
47	CTCF	chr3:21212580-21212730	GM12873	blood:	n/a	n/a
48	CTCF	chr3:21212580-21212730	AG09319	gingival:	n/a	n/a
49	CTCF	chr3:21212565-21212683	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr3:21212620-21212770	GM12864	blood:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21132848..21134885-chr3:21136213..21138179,2	K562	blood:
2	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
3	chr3:21097762..21100655-chr3:21104242..21105984,2	MCF-7	breast:
4	chr3:21086967..21088509-chr3:21091717..21094188,2	K562	blood:
5	chr3:21205402..21208322-chr3:21209638..21211827,2	K562	blood:
6	chr3:21086967..21088509-chr3:21091717..21094188,2	K562	blood:
7	chr3:21067350..21069805-chr3:21070647..21072179,2	K562	blood:
8	chr3:21207903..21212103-chr3:21235234..21238537,4	K562	blood:
9	chr3:21062603..21065448-chr3:21079335..21081512,2	K562	blood:
10	chr3:21087665..21089357-chr3:21090092..21092558,2	MCF-7	breast:
11	chr3:21175037..21177371-chr3:21182384..21184259,2	K562	blood:
12	chr3:21188799..21190342-chr3:21193601..21195363,2	K562	blood:
13	chr3:21087665..21089357-chr3:21090092..21092558,2	MCF-7	breast:
14	chr3:21132848..21134885-chr3:21136213..21138179,2	K562	blood:
15	chr3:21020852..21022735-chr3:21071640..21073973,2	K562	blood:
16	chr3:21049220..21051443-chr3:21113228..21114946,2	K562	blood:
17	chr3:21058401..21059994-chr3:21063772..21066035,2	K562	blood:
18	chr3:21100031..21101592-chr3:21111513..21113234,2	K562	blood:
19	chr3:21088992..21091588-chr3:21092168..21094857,2	K562	blood:
20	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
21	chr3:21100031..21101592-chr3:21111513..21113234,2	K562	blood:
22	chr3:21188799..21190342-chr3:21193601..21195363,2	K562	blood:
23	chr3:21175037..21177371-chr3:21182384..21184259,2	K562	blood:
24	chr3:21194222..21197075-chr3:21200094..21202897,2	K562	blood:
25	chr3:21067350..21069805-chr3:21070647..21072179,2	K562	blood:
26	chr3:21097762..21100655-chr3:21104242..21105984,2	MCF-7	breast:
27	chr3:21062603..21065448-chr3:21079335..21081512,2	K562	blood:
28	chr3:21194222..21197075-chr3:21200094..21202897,2	K562	blood:
29	chr20:22586398..22587122-chr3:21089488..21090217,2	MCF-7	breast:
30	chr3:21207950..21210850-chr3:21212178..21213928,2	K562	blood:
31	chr3:21088992..21091588-chr3:21092168..21094857,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-11	chr3:21082738-21082849	NONHSAT088635
2	lnc-KAT2B-11	chr3:21083244-21083384	NONHSAT088635
3	lnc-KAT2B-11	chr3:21084468-21084602	NONHSAT088635

No data

Variant related genes	Relation type
ENSG00000221659	TF binding region

Extended variants
information (count: 2786 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2786 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370220254	chr3:21064910-21064911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556885333	chr3:21064939-21064940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142280706	chr3:21064949-21064950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576775468	chr3:21064956-21064957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149761266	chr3:21064966-21064967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77053041	chr3:21064985-21064986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578206846	chr3:21065017-21065018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539368966	chr3:21065027-21065028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184475237	chr3:21065028-21065029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373798187	chr3:21065041-21065042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572418241	chr3:21065046-21065047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13065045	chr3:21065052-21065053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561434820	chr3:21065082-21065083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145704626	chr3:21065083-21065084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370894668	chr3:21065098-21065099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543499476	chr3:21065133-21065134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375768178	chr3:21065154-21065155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112842898	chr3:21065160-21065161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573020972	chr3:21065186-21065187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565409160	chr3:21065244-21065245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73819263	chr3:21065247-21065248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75007584	chr3:21065328-21065329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551671878	chr3:21065353-21065354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1497516	chr3:21065354-21065355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531203721	chr3:21065387-21065388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189789773	chr3:21065485-21065486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567243869	chr3:21065499-21065500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537974139	chr3:21065501-21065502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549879808	chr3:21065527-21065528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73819265	chr3:21065615-21065616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192789373	chr3:21065617-21065618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370806179	chr3:21065689-21065690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554456324	chr3:21065712-21065713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372652262	chr3:21065744-21065745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566192754	chr3:21065752-21065753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536947834	chr3:21065753-21065754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554704136	chr3:21065774-21065775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576010435	chr3:21065859-21065860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543533965	chr3:21065874-21065875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544594572	chr3:21065877-21065878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376942407	chr3:21065925-21065926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7632125	chr3:21065935-21065936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577427276	chr3:21065956-21065957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570891976	chr3:21065967-21065968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73819266	chr3:21065995-21065996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546507338	chr3:21066010-21066011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560292243	chr3:21066015-21066016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527631353	chr3:21066016-21066017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148941633	chr3:21066071-21066072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143698927	chr3:21066080-21066081	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21059000-21065800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21065000-21065400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:21065800-21066800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:21069800-21070800	Enhancers	Fetal Intestine Small	intestine
5	chr3:21070000-21070400	Enhancers	Fetal Intestine Large	intestine
6	chr3:21070800-21071600	Weak transcription	Fetal Intestine Small	intestine
7	chr3:21071600-21071800	Enhancers	Fetal Intestine Small	intestine
8	chr3:21079600-21079800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:21079800-21080800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:21080800-21081600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:21081200-21081800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:21081800-21084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:21084200-21085000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:21085000-21086400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:21086400-21086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:21086800-21108800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:21090400-21092000	Enhancers	Fetal Lung	lung
18	chr3:21090800-21092200	Enhancers	Brain Germinal Matrix	brain
19	chr3:21092000-21100600	Weak transcription	Fetal Lung	lung
20	chr3:21095400-21095800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:21096200-21097000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:21096400-21096600	Weak transcription	Aorta	Aorta
23	chr3:21096400-21097000	Enhancers	NHDF-Ad	bronchial
24	chr3:21096600-21096800	ZNF genes & repeats	Aorta	Aorta
25	chr3:21096800-21100800	Weak transcription	Aorta	Aorta
26	chr3:21097000-21100800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:21097000-21101000	Weak transcription	NHDF-Ad	bronchial
28	chr3:21100400-21100600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:21100600-21101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:21100600-21101600	Enhancers	Fetal Lung	lung
31	chr3:21100600-21101600	Enhancers	Fetal Stomach	stomach
32	chr3:21100800-21101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:21100800-21101400	Enhancers	Aorta	Aorta
34	chr3:21101000-21101400	Enhancers	Stomach Smooth Muscle	stomach
35	chr3:21101000-21101400	Enhancers	NHDF-Ad	bronchial
36	chr3:21101200-21101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:21101400-21104600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:21101400-21106800	Weak transcription	Aorta	Aorta
39	chr3:21101600-21104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:21101600-21104000	Weak transcription	Fetal Lung	lung
41	chr3:21101600-21104000	Weak transcription	Fetal Stomach	stomach
42	chr3:21103800-21104800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr3:21104000-21104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:21104000-21104600	Enhancers	Fetal Lung	lung
45	chr3:21104000-21105200	Enhancers	Fetal Stomach	stomach
46	chr3:21104600-21104800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:21104600-21105200	Enhancers	Fetal Muscle Leg	muscle
48	chr3:21104600-21108600	Weak transcription	Fetal Lung	lung
49	chr3:21105200-21106000	Weak transcription	Fetal Stomach	stomach
50	chr3:21106000-21106200	Enhancers	Fetal Stomach	stomach

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