Variant report

Variant	nsv877382
Chromosome Location	chr3:121300728-121324643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:121316377-121316483	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:121316361-121316430	K562	blood:	n/a	n/a
3	ATF2	chr3:121311674-121312713	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:121311633-121312689	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr3:121312116-121312453	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr3:121311672-121312712	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr3:121309763-121310107	HepG2	liver:	n/a	chr3:121309917-121309928
8	CEBPB	chr3:121316303-121316542	IMR90	lung:	n/a	n/a
9	CEBPB	chr3:121316313-121316588	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr3:121309777-121310035	K562	blood:	n/a	chr3:121309917-121309928
11	CEBPB	chr3:121309772-121310101	IMR90	lung:	n/a	chr3:121309917-121309928
12	CEBPB	chr3:121312150-121312397	K562	blood:	n/a	n/a
13	CEBPB	chr3:121312115-121312384	HepG2	liver:	n/a	n/a
14	CEBPB	chr3:121312057-121312606	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:121316419-121316506	K562	blood:	n/a	n/a
16	CEBPB	chr3:121316268-121316598	HepG2	liver:	n/a	n/a
17	CEBPB	chr3:121309826-121310026	H1-hESC	embryonic stem cell:	n/a	chr3:121309917-121309928
18	CEBPB	chr3:121309775-121310048	A549	lung:	n/a	chr3:121309917-121309928
19	CHD2	chr3:121311645-121312717	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr3:121312073-121312587	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:121312141-121312423	K562	blood:	n/a	chr3:121312270-121312283
22	CTCF	chr3:121318009-121318084	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr3:121312160-121312310	GM12873	blood:	n/a	chr3:121312270-121312283
24	CTCF	chr3:121312160-121312310	GM12865	blood:	n/a	chr3:121312270-121312283
25	CTCF	chr3:121312200-121312350	GM12867	blood:	n/a	chr3:121312270-121312283
26	CTCF	chr3:121312140-121312290	GM06990	blood:	n/a	chr3:121312270-121312283
27	CTCF	chr3:121312257-121312322	GM13977	blood:	n/a	chr3:121312270-121312283
28	CTCF	chr3:121312160-121312310	GM12864	blood:	n/a	chr3:121312270-121312283
29	CTCF	chr3:121312218-121312350	GM12891	blood:	n/a	chr3:121312270-121312283
30	CTCF	chr3:121312120-121312270	GM12864	blood:	n/a	n/a
31	CTCF	chr3:121306612-121306660	GM13976	blood:	n/a	n/a
32	CTCF	chr3:121312246-121312293	NHEK	skin:	n/a	chr3:121312270-121312283
33	CTCF	chr3:121312220-121312370	RPTEC	kidney:	n/a	chr3:121312270-121312283
34	CTCF	chr3:121302418-121302430	GM10248	blood:	n/a	n/a
35	CTCF	chr3:121312229-121312357	Kidney_OC	kidney:	n/a	chr3:121312270-121312283
36	CTCF	chr3:121312285-121312314	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr3:121312220-121312370	GM12866	blood:	n/a	chr3:121312270-121312283
38	CTCF	chr3:121312200-121312350	WERI-Rb-1	eye:	n/a	chr3:121312270-121312283
39	CTCF	chr3:121312240-121312390	RPTEC	kidney:	n/a	chr3:121312270-121312283
40	CTCF	chr3:121312200-121312350	GM12871	blood:	n/a	chr3:121312270-121312283
41	CTCF	chr3:121312140-121312290	HEEpiC	esophagus:	n/a	chr3:121312270-121312283
42	CTCF	chr3:121312200-121312350	HEEpiC	esophagus:	n/a	chr3:121312270-121312283
43	CTCF	chr3:121312260-121312410	NHEK	skin:	n/a	chr3:121312270-121312283
44	CTCF	chr3:121312237-121312348	GM19240	blood:	n/a	chr3:121312270-121312283
45	CTCF	chr3:121312220-121312370	GM12865	blood:	n/a	chr3:121312270-121312283
46	CTCF	chr3:121312192-121312371	H1-hESC	embryonic stem cell:	n/a	chr3:121312270-121312283
47	CTCF	chr3:121312231-121312339	K562	blood:	n/a	chr3:121312270-121312283
48	CTCF	chr3:121312209-121312360	GM12892	blood:	n/a	chr3:121312270-121312283
49	E2F4	chr3:121313629-121313695	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr3:121301007-121301043	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:121312127-121312177	BE2_C	brain:	n/a
2	chr3:121312127-121312177	BE2_C	brain:	n/a
3	chr3:121312127-121312177	ECC-1	luminal epithelium:	n/a
4	chr3:121310923-121310973	HCF	heart:	n/a
5	chr3:121312164-121312214	MCF-7	breast:	n/a
6	chr3:121312164-121312214	LNCaP	prostate:	n/a
7	chr3:121307887-121307937	AG10803	skin:	n/a
8	chr3:121312241-121312291	HL-60	blood:	n/a
9	chr3:121312127-121312177	Hepatocyte	liver:	n/a
10	chr3:121312164-121312214	T-47D	breast:	n/a
11	chr3:121310923-121310973	HEK293	kidney:	embryo
12	chr3:121312241-121312291	HCPEpiC	choroid plexus:	n/a
13	chr3:121312127-121312177	PANC-1	pancreas:	n/a
14	chr3:121311075-121311125	BJ	skin:	n/a
15	chr3:121311075-121311125	GM12892	blood:	n/a
16	chr3:121312164-121312214	HCT-116	colon:	n/a
17	chr3:121310923-121310973	MCF-7	breast:	n/a
18	chr3:121312164-121312214	ECC-1	luminal epithelium:	n/a
19	chr3:121312164-121312214	HEK293	kidney:	embryo
20	chr3:121310923-121310973	HL-60	blood:	n/a
21	chr3:121310923-121310973	HEEpiC	esophagus:	n/a
22	chr3:121307887-121307937	BJ	skin:	n/a
23	chr3:121307887-121307937	NH-A	brain:	n/a
24	chr3:121312241-121312291	PANC-1	pancreas:	n/a
25	chr3:121310923-121310973	SKMC	muscle:	n/a
26	chr3:121311075-121311125	HCF	heart:	n/a
27	chr3:121312164-121312214	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:121312164-121312214	SAEC	small airway:	n/a
29	chr3:121307887-121307937	HCF	heart:	n/a
30	chr3:121311075-121311125	MCF-7	breast:	n/a
31	chr3:121312241-121312291	NHBE	bronchial:	n/a
32	chr3:121307887-121307937	Hela-S3	cervix:	n/a
33	chr3:121310923-121310973	HepG2	liver:	n/a
34	chr3:121312127-121312177	HRE	kidney:	n/a
35	chr3:121312241-121312291	LNCaP	prostate:	n/a
36	chr3:121307887-121307937	AG09309	skin:	n/a
37	chr3:121307887-121307937	ovcar-3	ovarian:	n/a
38	chr3:121312127-121312177	SKMC	muscle:	n/a
39	chr3:121312241-121312291	Hela-S3	cervix:	n/a
40	chr3:121311075-121311125	Hela-S3	cervix:	n/a
41	chr3:121311075-121311125	SK-N-SH	brain:	n/a
42	chr3:121307887-121307937	MCF-7	breast:	n/a
43	chr3:121312164-121312214	HRE	kidney:	n/a
44	chr3:121310923-121310973	AG09319	gingival:	n/a
45	chr3:121312127-121312177	MCF10A-Er-Src	breast:	n/a
46	chr3:121312127-121312177	HCPEpiC	choroid plexus:	n/a
47	chr3:121311075-121311125	T-47D	breast:	n/a
48	chr3:121311075-121311125	K562	blood:	n/a
49	chr3:121312164-121312214	HCF	heart:	n/a
50	chr3:121311075-121311125	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:60095074..60095939-chr3:121314935..121315693,2	MCF-7	breast:
2	chr3:121298924..121301111-chr3:121307868..121309748,2	MCF-7	breast:
3	chr3:121298924..121301111-chr3:121307868..121309748,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238670	TF binding region
FBXO40	TF binding region
ENSG00000238670	CpG island
FBXO40	CpG island

Extended variants
information (count: 853 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:853 , 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	rs13096657	chr3:121300728-121300729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190801772	chr3:121300797-121300798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183900742	chr3:121300822-121300823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534276481	chr3:121300959-121300960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557731508	chr3:121300975-121300976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187862615	chr3:121301193-121301194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573927216	chr3:121301217-121301218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542828760	chr3:121301252-121301253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556659610	chr3:121301412-121301413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573860931	chr3:121301424-121301425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386665204	chr3:121301449-121301450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559570570	chr3:121301466-121301467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6769198	chr3:121301484-121301485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375696059	chr3:121301493-121301494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545414526	chr3:121301509-121301510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140595772	chr3:121301536-121301537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530841845	chr3:121301538-121301539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554848077	chr3:121301646-121301647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150490646	chr3:121301678-121301679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192692474	chr3:121301746-121301747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184452178	chr3:121301750-121301751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60442485	chr3:121301755-121301756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187629172	chr3:121301763-121301764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141979781	chr3:121301799-121301800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562647393	chr3:121301801-121301802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551414859	chr3:121301830-121301831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571193228	chr3:121301843-121301844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536662712	chr3:121301866-121301867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376081015	chr3:121301873-121301874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397990948	chr3:121301894-121301895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542614068	chr3:121301928-121301929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556597253	chr3:121301987-121301988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527663733	chr3:121302044-121302045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191681701	chr3:121302076-121302077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184779902	chr3:121302094-121302095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4234144	chr3:121302169-121302170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34981496	chr3:121302182-121302183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565520095	chr3:121302202-121302203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573394247	chr3:121302215-121302216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527887870	chr3:121302250-121302251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149199124	chr3:121302273-121302274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145829744	chr3:121302310-121302311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559011844	chr3:121302345-121302346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189291787	chr3:121302359-121302360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11714662	chr3:121302380-121302381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11706902	chr3:121302385-121302386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13065635	chr3:121302410-121302411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs540771402	chr3:121302445-121302446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559477383	chr3:121302452-121302453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528297157	chr3:121302474-121302475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121293600-121311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:121300600-121300800	Enhancers	Pancreas	Pancrea
3	chr3:121302400-121302600	Enhancers	Pancreas	Pancrea
4	chr3:121302800-121303400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:121303400-121303600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr3:121303400-121303800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:121303400-121304000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:121303800-121310400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:121304000-121309000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:121305800-121309000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:121309000-121309200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:121309000-121309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:121309000-121311600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:121309200-121310600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:121309200-121311600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:121309200-121311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:121309200-121311800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:121309400-121310600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:121310000-121310200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:121310000-121310200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:121310000-121311600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:121310200-121311000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:121310200-121311600	Enhancers	Fetal Heart	heart
24	chr3:121310200-121311600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:121310400-121311400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:121310400-121311600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:121310600-121310800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:121310600-121311600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:121310800-121311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:121311000-121313200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:121311400-121315000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr3:121311600-121311800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr3:121311600-121311800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:121311600-121311800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:121311600-121312000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:121311600-121312000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:121311600-121312000	Flanking Active TSS	Fetal Heart	heart
38	chr3:121311600-121312000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:121311600-121312000	Enhancers	Stomach Smooth Muscle	stomach
40	chr3:121311600-121312200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:121311600-121312200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr3:121311600-121312200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr3:121311600-121312200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:121311600-121312200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:121311600-121312200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:121311600-121312600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:121311600-121312600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:121311600-121312600	Enhancers	Ovary	ovary
49	chr3:121311600-121312600	Enhancers	HSMMtube	muscle
50	chr3:121311600-121313000	Active TSS	Right Ventricle	heart

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