Variant report

Variant	nsv3725
Chromosome Location	chr3:20547474-20592753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:290)
CpG islands
(count:183)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20553373-20553610	HepG2	liver:	n/a	n/a
2	BACH1	chr3:20578833-20579051	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr3:20568523-20568549	K562	blood:	n/a	n/a
4	CEBPB	chr3:20551895-20552228	HepG2	liver:	n/a	n/a
5	CTCF	chr3:20553274-20553583	A549	lung:	n/a	n/a
6	CTCF	chr3:20553319-20553622	Gliobla	brain:	n/a	n/a
7	CTCF	chr3:20553316-20553697	MCF-7	breast:	n/a	n/a
8	CTCF	chr3:20553300-20553450	HFF	foreskin:	n/a	n/a
9	CTCF	chr3:20553420-20553570	HepG2	liver:	n/a	n/a
10	CTCF	chr3:20553396-20553533	GM19240	blood:	n/a	n/a
11	CTCF	chr3:20553300-20553450	HVMF	connective:	n/a	n/a
12	CTCF	chr3:20553480-20553630	HFF	foreskin:	n/a	n/a
13	CTCF	chr3:20553380-20553530	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr3:20553320-20553470	HL-60	blood:	n/a	n/a
15	CTCF	chr3:20553340-20553490	BE2_C	brain:	n/a	n/a
16	CTCF	chr3:20553360-20553510	GM12864	blood:	n/a	n/a
17	CTCF	chr3:20553400-20553550	GM12873	blood:	n/a	n/a
18	CTCF	chr3:20553420-20553570	GM12867	blood:	n/a	n/a
19	CTCF	chr3:20553740-20553890	GM12866	blood:	n/a	n/a
20	CTCF	chr3:20553400-20553550	SAEC	small airway:	n/a	n/a
21	CTCF	chr3:20591170-20591289	K562	blood:	n/a	n/a
22	CTCF	chr3:20553400-20553550	AG04449	skin:	n/a	n/a
23	CTCF	chr3:20553343-20553579	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr3:20553380-20553530	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr3:20553314-20553616	GM12878	blood:	n/a	n/a
26	CTCF	chr3:20553420-20553570	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr3:20553400-20553550	GM12865	blood:	n/a	n/a
28	CTCF	chr3:20553343-20553566	GM13976	blood:	n/a	n/a
29	CTCF	chr3:20553400-20553550	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr3:20553380-20553530	GM12864	blood:	n/a	n/a
31	CTCF	chr3:20553360-20553510	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr3:20553320-20553470	NHLF	lung:	n/a	n/a
33	CTCF	chr3:20553380-20553530	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr3:20553420-20553570	HCM	heart:	n/a	n/a
35	CTCF	chr3:20553380-20553530	RPTEC	kidney:	n/a	n/a
36	CTCF	chr3:20553356-20553590	A549	lung:	n/a	n/a
37	CTCF	chr3:20553420-20553570	RPTEC	kidney:	n/a	n/a
38	CTCF	chr3:20553380-20553530	NB4	blood:	n/a	n/a
39	CTCF	chr3:20553460-20553610	NHEK	skin:	n/a	n/a
40	CTCF	chr3:20553400-20553550	BJ	skin:	n/a	n/a
41	CTCF	chr3:20553300-20553450	GM12868	blood:	n/a	n/a
42	CTCF	chr3:20553380-20553530	SAEC	small airway:	n/a	n/a
43	CTCF	chr3:20553320-20553470	GM12875	blood:	n/a	n/a
44	CTCF	chr3:20566980-20567130	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr3:20553380-20553530	HPF	lung:	n/a	n/a
46	CTCF	chr3:20553557-20553562	GM19239	blood:	n/a	n/a
47	CTCF	chr3:20553347-20553574	MCF-7	breast:	n/a	n/a
48	CTCF	chr3:20553331-20553588	LNCaP	prostate:	n/a	n/a
49	CTCF	chr3:20553440-20553590	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:20553360-20553510	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20589760-20589810	Hela-S3	cervix:	n/a
2	chr3:20575513-20575563	GM06990	blood:	n/a
3	chr3:20575513-20575563	ECC-1	luminal epithelium:	n/a
4	chr3:20575513-20575563	Jurkat	blood:	n/a
5	chr3:20575513-20575563	BE2_C	brain:	n/a
6	chr3:20575513-20575563	RPTEC	kidney:	n/a
7	chr3:20589671-20589721	BE2_C	brain:	n/a
8	chr3:20589671-20589721	U87	brain:	n/a
9	chr3:20575513-20575563	SK-N-SH	brain:	n/a
10	chr3:20589671-20589721	HCF	heart:	n/a
11	chr3:20589760-20589810	HRPEpiC	eye:	n/a
12	chr3:20589671-20589721	HUVEC	blood vessel:	n/a
13	chr3:20589671-20589721	AoSMC	blood vessel:	n/a
14	chr3:20575513-20575563	HEEpiC	esophagus:	n/a
15	chr3:20589760-20589810	CMK	blood:	n/a
16	chr3:20575513-20575563	HCM	heart:	n/a
17	chr3:20589760-20589810	A549	lung:	n/a
18	chr3:20589671-20589721	ovcar-3	ovarian:	n/a
19	chr3:20589760-20589810	SAEC	small airway:	n/a
20	chr3:20589671-20589721	SK-N-SH_RA	brain:	n/a
21	chr3:20589760-20589810	GM12891	blood:	n/a
22	chr3:20575513-20575563	HIPEpiC	eye:	n/a
23	chr3:20589760-20589810	PrEC	prostate:	n/a
24	chr3:20589671-20589721	K562	blood:	n/a
25	chr3:20575513-20575563	HL-60	blood:	n/a
26	chr3:20575513-20575563	GM12891	blood:	n/a
27	chr3:20575513-20575563	AG09319	gingival:	n/a
28	chr3:20589671-20589721	PFSK-1	brain:	n/a
29	chr3:20589760-20589810	AG04449	skin:	fetal
30	chr3:20589671-20589721	HRCEpiC	kidney:	n/a
31	chr3:20575513-20575563	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:20589760-20589810	BE2_C	brain:	n/a
33	chr3:20589760-20589810	GM12892	blood:	n/a
34	chr3:20589760-20589810	HL-60	blood:	n/a
35	chr3:20589760-20589810	Jurkat	blood:	n/a
36	chr3:20575513-20575563	NHBE	bronchial:	n/a
37	chr3:20589671-20589721	NB4	blood:	n/a
38	chr3:20589671-20589721	HMEC	breast:	n/a
39	chr3:20575513-20575563	HEK293	kidney:	embryo
40	chr3:20575513-20575563	Hepatocyte	liver:	n/a
41	chr3:20589760-20589810	Hepatocyte	liver:	n/a
42	chr3:20575513-20575563	Caco-2	colon:	n/a
43	chr3:20575513-20575563	A549	lung:	n/a
44	chr3:20589760-20589810	AG04450	lung:	fetal
45	chr3:20589760-20589810	RPTEC	kidney:	n/a
46	chr3:20589671-20589721	GM19239	blood:	n/a
47	chr3:20575513-20575563	AoSMC	blood vessel:	n/a
48	chr3:20589760-20589810	AG10803	skin:	n/a
49	chr3:20575513-20575563	NT2-D1	testis:	n/a
50	chr3:20589671-20589721	HCT-116	colon:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20576686..20578791-chr3:20582822..20585429,2	MCF-7	breast:
2	chr3:20576686..20578791-chr3:20582822..20585429,2	MCF-7	breast:
3	chr3:20577616..20580422-chr3:20581225..20583967,3	K562	blood:
4	chr3:20553366..20553898-chr3:21257700..21258348,2	MCF-7	breast:
5	chr3:20553254..20553852-chr3:21257816..21258713,2	MCF-7	breast:
6	chr3:20553071..20554107-chr3:20781207..20782086,3	MCF-7	breast:
7	chr17:57920861..57923845-chr3:20581102..20583235,2	MCF-7	breast:
8	chr3:20577616..20580422-chr3:20581225..20583967,3	K562	blood:
9	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
10	chr3:20558136..20559640-chr3:20560230..20563085,2	K562	blood:
11	chr3:20552973..20553911-chr3:20970672..20972125,8	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-815P	TF binding region
RNU6-815P	CpG island

Extended variants
information (count: 857 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188942439	chr3:20549460-20549461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs558324720	chr3:20549892-20549893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs576784858	chr3:20549981-20549982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565466863	chr3:20550002-20550003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559626520	chr3:20550004-20550005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567811270	chr3:20551833-20551834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535108264	chr3:20551891-20551892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556524085	chr3:20551963-20551964	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs545322013	chr3:20551988-20551989	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113151626	chr3:20552022-20552023	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1587978	chr3:20552038-20552039	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs539374103	chr3:20552039-20552040	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs187567214	chr3:20552083-20552084	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143453273	chr3:20552100-20552101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147996557	chr3:20552168-20552169	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539870442	chr3:20552203-20552204	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372665752	chr3:20552216-20552217	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs192689728	chr3:20552249-20552250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6799290	chr3:20552260-20552261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562890015	chr3:20552363-20552364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184366692	chr3:20552379-20552380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545383805	chr3:20552380-20552381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189304694	chr3:20552422-20552423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375788441	chr3:20552446-20552447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549085035	chr3:20552461-20552462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7620685	chr3:20552462-20552463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs549142697	chr3:20552477-20552478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371124536	chr3:20552480-20552481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192743857	chr3:20552489-20552490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141683456	chr3:20552504-20552505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550233486	chr3:20552505-20552506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80007087	chr3:20552509-20552510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73039013	chr3:20552575-20552576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539381672	chr3:20552606-20552607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376316743	chr3:20552612-20552613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184629839	chr3:20552628-20552629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75355352	chr3:20552650-20552651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534007425	chr3:20552653-20552654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555614262	chr3:20552655-20552656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573851257	chr3:20552666-20552667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113091624	chr3:20552669-20552670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188680692	chr3:20552679-20552680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556650878	chr3:20552689-20552690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181458802	chr3:20552691-20552692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577989912	chr3:20552715-20552716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186263455	chr3:20552740-20552741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189464782	chr3:20552837-20552838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560647866	chr3:20552858-20552859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572682378	chr3:20552861-20552862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182239361	chr3:20552881-20552882	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20551800-20553800	Enhancers	Liver	Liver
2	chr3:20552200-20552600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:20552200-20552800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:20552600-20553200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:20553600-20554000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:20553600-20554000	Enhancers	Left Ventricle	heart
7	chr3:20553600-20554000	Enhancers	Right Atrium	heart
8	chr3:20553600-20554000	Enhancers	NHDF-Ad	bronchial
9	chr3:20553600-20554400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:20553800-20554000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:20553800-20554000	Enhancers	Gastric	stomach
12	chr3:20553800-20557200	Weak transcription	Liver	Liver
13	chr3:20557200-20558200	Enhancers	Liver	Liver
14	chr3:20557400-20558000	Enhancers	Adipose Nuclei	Adipose
15	chr3:20559400-20569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:20565000-20565400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:20565000-20565400	ZNF genes & repeats	Pancreas	Pancrea
18	chr3:20569000-20569800	Enhancers	Fetal Stomach	stomach
19	chr3:20569000-20571200	Enhancers	Fetal Intestine Small	intestine
20	chr3:20569200-20571200	Enhancers	Fetal Intestine Large	intestine
21	chr3:20569400-20569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:20569600-20570000	Enhancers	Fetal Lung	lung
23	chr3:20569800-20570200	Weak transcription	Fetal Stomach	stomach
24	chr3:20570000-20570400	Weak transcription	Fetal Lung	lung
25	chr3:20570200-20571000	Enhancers	Fetal Stomach	stomach
26	chr3:20570400-20571000	Enhancers	Fetal Lung	lung
27	chr3:20575800-20578600	Weak transcription	NHDF-Ad	bronchial
28	chr3:20578600-20579000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:20578600-20579000	Enhancers	Psoas Muscle	Psoas
30	chr3:20578600-20579000	Enhancers	NHDF-Ad	bronchial
31	chr3:20581000-20581600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:20581600-20582800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:20583200-20583400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:20587400-20588200	Enhancers	HUVEC	blood vessel
35	chr3:20587800-20588600	Enhancers	NHDF-Ad	bronchial
36	chr3:20588000-20588400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:20588000-20588600	Enhancers	Muscle Satellite Cultured Cells	--

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