Variant report

Variant	nsv1004990
Chromosome Location	chr3:159090974-159174954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:159098920-159099222	HepG2	liver:	n/a	chr3:159099094-159099107 chr3:159099094-159099105
2	CEBPB	chr3:159151608-159151691	HepG2	liver:	n/a	chr3:159151619-159151630 chr3:159151619-159151632 chr3:159151620-159151631 chr3:159151621-159151630
3	CEBPB	chr3:159147278-159147791	MCF-7	breast:	n/a	chr3:159147568-159147580 chr3:159147757-159147770
4	CEBPB	chr3:159147319-159147836	MCF-7	breast:	n/a	chr3:159147568-159147580 chr3:159147757-159147770
5	CEBPB	chr3:159168936-159169183	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:159098951-159099215	IMR90	lung:	n/a	chr3:159099094-159099107 chr3:159099094-159099105
7	CEBPB	chr3:159166749-159167001	MCF-7	breast:	n/a	chr3:159166877-159166888
8	CTCF	chr3:159166831-159166911	NHEK	skin:	n/a	n/a
9	CTCF	chr3:159132623-159132664	LNCaP	prostate:	n/a	n/a
10	CTCF	chr3:159158022-159158086	GM10248	blood:	n/a	n/a
11	CTCF	chr3:159115568-159115697	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:159104725-159104799	ProgFib	skin:	n/a	n/a
13	CTCF	chr3:159168280-159168430	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr3:159115609-159115613	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:159158860-159159010	HAc	cerebellar:	n/a	n/a
16	CTCF	chr3:159141343-159141418	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:159097440-159097478	LNCaP	prostate:	n/a	n/a
18	CTCF	chr3:159115605-159115608	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:159115586-159115682	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:159115614-159115620	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:159136820-159136970	HAc	cerebellar:	n/a	n/a
22	CTCF	chr3:159115593-159115674	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:159170082-159170154	GM10266	blood:	n/a	n/a
24	E2F4	chr3:159168018-159168251	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr3:159108357-159108487	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr3:159153969-159154033	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr3:159096017-159096032	MCF10A-Er-Src	breast:	n/a	n/a
28	EGR1	chr3:159168864-159169185	MCF-7	breast:	n/a	n/a
29	ELF1	chr3:159136613-159137248	HCT-116	colon:	n/a	n/a
30	ELF1	chr3:159136568-159137278	HCT-116	colon:	n/a	n/a
31	ELF1	chr3:159136610-159137269	MCF-7	breast:	n/a	n/a
32	EP300	chr3:159107873-159108359	SK-N-SH	brain:	n/a	chr3:159108240-159108247
33	FOS	chr3:159150522-159150877	HUVEC	blood vessel:	n/a	chr3:159150703-159150714 chr3:159150705-159150714
34	FOS	chr3:159150540-159150858	MCF10A-Er-Src	breast:	n/a	chr3:159150703-159150714 chr3:159150705-159150714
35	FOS	chr3:159136649-159137164	HUVEC	blood vessel:	n/a	n/a
36	FOS	chr3:159166815-159166991	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr3:159136791-159136942	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr3:159136710-159136954	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:159150563-159150789	MCF10A-Er-Src	breast:	n/a	chr3:159150703-159150714 chr3:159150705-159150714
40	FOS	chr3:159150545-159150793	MCF10A-Er-Src	breast:	n/a	chr3:159150703-159150714 chr3:159150705-159150714
41	FOS	chr3:159136765-159136910	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:159136711-159137045	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:159169047-159169141	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:159150573-159150851	MCF10A-Er-Src	breast:	n/a	chr3:159150703-159150714 chr3:159150705-159150714
45	FOS	chr3:159166823-159167015	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:159168956-159169192	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr3:159166817-159166989	MCF10A-Er-Src	breast:	n/a	n/a
48	FOXA1	chr3:159115537-159115807	HepG2	liver:	n/a	n/a
49	FOXA1	chr3:159141217-159141395	T-47D	breast:	n/a	n/a
50	FOXA1	chr3:159168910-159169302	HepG2	liver:	n/a	chr3:159169034-159169046

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:159171160-159171210	LNCaP	prostate:	n/a
2	chr3:159171160-159171210	HRE	kidney:	n/a
3	chr3:159171160-159171210	MCF-7	breast:	n/a
4	chr3:159171160-159171210	AG09319	gingival:	n/a
5	chr3:159171160-159171210	Hepatocyte	liver:	n/a
6	chr3:159171160-159171210	HAEpiC	amniotic membrane:	n/a
7	chr3:159171160-159171210	HRCEpiC	kidney:	n/a
8	chr3:159171160-159171210	NHDF-neo	bronchial:	n/a
9	chr3:159171160-159171210	T-47D	breast:	n/a
10	chr3:159171160-159171210	HCM	heart:	n/a
11	chr3:159171160-159171210	ovcar-3	ovarian:	n/a
12	chr3:159171160-159171210	PrEC	prostate:	n/a
13	chr3:159171160-159171210	PFSK-1	brain:	n/a
14	chr3:159171160-159171210	HCF	heart:	n/a
15	chr3:159171160-159171210	GM06990	blood:	n/a
16	chr3:159171160-159171210	U87	brain:	n/a
17	chr3:159171160-159171210	HMEC	breast:	n/a
18	chr3:159171160-159171210	PANC-1	pancreas:	n/a
19	chr3:159171160-159171210	MCF10A-Er-Src	breast:	n/a
20	chr3:159171160-159171210	NB4	blood:	n/a
21	chr3:159171160-159171210	HCT-116	colon:	n/a
22	chr3:159171160-159171210	SK-N-SH	brain:	n/a
23	chr3:159171160-159171210	HRPEpiC	eye:	n/a
24	chr3:159171160-159171210	HIPEpiC	eye:	n/a
25	chr3:159171160-159171210	SK-N-MC	brain:	n/a
26	chr3:159171160-159171210	ProgFib	skin:	n/a
27	chr3:159171160-159171210	NHBE	bronchial:	n/a
28	chr3:159171160-159171210	CMK	blood:	n/a
29	chr3:159171160-159171210	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:159171160-159171210	AoSMC	blood vessel:	n/a
31	chr3:159171160-159171210	BJ	skin:	n/a
32	chr3:159171160-159171210	RPTEC	kidney:	n/a
33	chr3:159171160-159171210	SK-N-SH_RA	brain:	n/a
34	chr3:159171160-159171210	GM12891	blood:	n/a
35	chr3:159171160-159171210	HEEpiC	esophagus:	n/a
36	chr3:159171160-159171210	HL-60	blood:	n/a
37	chr3:159171160-159171210	HNPCEpiC	eye:	n/a
38	chr3:159171160-159171210	AG04449	skin:	fetal
39	chr3:159171160-159171210	Jurkat	blood:	n/a
40	chr3:159171160-159171210	BE2_C	brain:	n/a
41	chr3:159171160-159171210	ECC-1	luminal epithelium:	n/a
42	chr3:159171160-159171210	NH-A	brain:	n/a
43	chr3:159171160-159171210	NT2-D1	testis:	n/a
44	chr3:159171160-159171210	SAEC	small airway:	n/a
45	chr3:159171160-159171210	HepG2	liver:	n/a
46	chr3:159171160-159171210	GM19239	blood:	n/a
47	chr3:159171160-159171210	HCPEpiC	choroid plexus:	n/a
48	chr3:159171160-159171210	HEK293	kidney:	embryo
49	chr3:159171160-159171210	Hela-S3	cervix:	n/a
50	chr3:159171160-159171210	HUVEC	blood vessel:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:159164204..159166736-chr3:159168250..159169842,2	K562	blood:
2	chr3:159025201..159027938-chr3:159107782..159110251,2	MCF-7	breast:
3	chr3:159164204..159166736-chr3:159168250..159169842,2	K562	blood:
4	chr3:159147245..159149720-chr3:159151129..159153409,4	MCF-7	breast:
5	chr3:159166123..159169041-chr3:159186144..159188668,2	MCF-7	breast:
6	chr3:159147245..159149720-chr3:159151129..159153409,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244249	TF binding region
ENSG00000244249	CpG island

Extended variants
information (count: 971 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557388708	chr3:159095040-159095041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150191271	chr3:159095043-159095044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138107212	chr3:159095074-159095075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77430503	chr3:159095116-159095117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573271255	chr3:159095159-159095160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181222999	chr3:159095167-159095168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74836364	chr3:159095207-159095208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529100954	chr3:159095218-159095219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544361939	chr3:159095246-159095247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551150885	chr3:159095247-159095248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185432799	chr3:159095278-159095279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112204630	chr3:159095283-159095284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529796881	chr3:159095309-159095310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1449006	chr3:159095337-159095338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115210000	chr3:159095386-159095387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548806228	chr3:159095394-159095395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567324028	chr3:159095410-159095411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566591281	chr3:159095416-159095417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372873547	chr3:159095420-159095421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77240886	chr3:159095444-159095445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77521258	chr3:159095495-159095496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569451763	chr3:159095539-159095540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149531597	chr3:159095563-159095564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189896451	chr3:159095630-159095631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527382180	chr3:159095638-159095639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531115644	chr3:159095667-159095668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182475943	chr3:159095681-159095682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144058592	chr3:159095698-159095699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570718159	chr3:159095754-159095755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555596866	chr3:159095755-159095756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73874515	chr3:159095758-159095759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377202379	chr3:159095768-159095769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138641346	chr3:159095786-159095787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141645494	chr3:159095811-159095812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577408926	chr3:159095857-159095858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111664037	chr3:159095869-159095870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537800044	chr3:159095948-159095949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559970247	chr3:159095974-159095975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532894020	chr3:159095998-159095999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76447374	chr3:159095999-159096000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61793163	chr3:159096039-159096040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560703473	chr3:159096042-159096043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61793164	chr3:159096071-159096072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549608318	chr3:159096099-159096100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569512095	chr3:159096108-159096109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535284316	chr3:159096136-159096137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554617139	chr3:159096142-159096143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552105212	chr3:159096217-159096218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533270974	chr3:159096220-159096221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573009305	chr3:159096240-159096241	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159095000-159096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:159095600-159096400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:159096000-159096400	Enhancers	Fetal Kidney	kidney
4	chr3:159096200-159096800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:159096200-159096800	Enhancers	Brain Substantia Nigra	brain
6	chr3:159096400-159097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:159098600-159099600	Enhancers	Colon Smooth Muscle	Colon
8	chr3:159103000-159103200	Enhancers	Gastric	stomach
9	chr3:159108400-159109000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:159108400-159109400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:159108600-159109600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:159109600-159110000	Enhancers	Right Ventricle	heart
13	chr3:159134200-159134600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:159134200-159137200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:159134400-159134800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:159134600-159134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:159134600-159135000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:159134600-159135000	Enhancers	Fetal Stomach	stomach
19	chr3:159134600-159136000	Enhancers	Osteobl	bone
20	chr3:159134600-159136600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:159134600-159137200	Enhancers	HSMM	muscle
22	chr3:159134800-159135800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:159134800-159137200	Enhancers	HSMMtube	muscle
24	chr3:159135000-159137200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:159135400-159135600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:159135400-159135800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:159135400-159135800	Enhancers	NH-A	brain
28	chr3:159135400-159137200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:159135600-159135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:159135600-159136600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:159135600-159137200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:159135800-159136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:159135800-159136800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:159135800-159137200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:159136000-159137000	Weak transcription	Osteobl	bone
36	chr3:159136400-159137200	Enhancers	NHEK	skin
37	chr3:159136600-159136800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:159136600-159137200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:159136600-159137200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:159136600-159137200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:159136600-159137200	Enhancers	HMEC	breast
42	chr3:159136800-159137200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:159136800-159137200	Enhancers	NHDF-Ad	bronchial
44	chr3:159137000-159137200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:159137000-159137200	Enhancers	Osteobl	bone
46	chr3:159140600-159140800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:159140600-159140800	Bivalent/Poised TSS	A549	lung
48	chr3:159141600-159142000	Enhancers	Placenta	Placenta
49	chr3:159147200-159147800	Enhancers	Fetal Brain Male	brain
50	chr3:159147800-159149000	Weak transcription	Fetal Brain Male	brain

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