Variant report

Variant	nsv965204
Chromosome Location	chr3:121305043-121322455
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	chr3:121316268-121316598	HepG2	liver:	n/a	n/a
8	CEBPB	chr3:121312115-121312384	HepG2	liver:	n/a	n/a
9	CEBPB	chr3:121312057-121312606	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:121316313-121316588	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:121316303-121316542	IMR90	lung:	n/a	n/a
12	CEBPB	chr3:121309826-121310026	H1-hESC	embryonic stem cell:	n/a	chr3:121309917-121309928
13	CEBPB	chr3:121309763-121310107	HepG2	liver:	n/a	chr3:121309917-121309928
14	CEBPB	chr3:121309777-121310035	K562	blood:	n/a	chr3:121309917-121309928
15	CEBPB	chr3:121316419-121316506	K562	blood:	n/a	n/a
16	CEBPB	chr3:121312150-121312397	K562	blood:	n/a	n/a
17	CEBPB	chr3:121309772-121310101	IMR90	lung:	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	chr3:121306612-121306660	GM13976	blood:	n/a	n/a
22	CTCF	chr3:121312257-121312322	GM13977	blood:	n/a	chr3:121312270-121312283
23	CTCF	chr3:121312220-121312370	GM12865	blood:	n/a	chr3:121312270-121312283
24	CTCF	chr3:121312200-121312350	GM12871	blood:	n/a	chr3:121312270-121312283
25	CTCF	chr3:121312160-121312310	GM12864	blood:	n/a	chr3:121312270-121312283
26	CTCF	chr3:121312209-121312360	GM12892	blood:	n/a	chr3:121312270-121312283
27	CTCF	chr3:121312160-121312310	GM12873	blood:	n/a	chr3:121312270-121312283
28	CTCF	chr3:121312218-121312350	GM12891	blood:	n/a	chr3:121312270-121312283
29	CTCF	chr3:121312140-121312290	HEEpiC	esophagus:	n/a	chr3:121312270-121312283
30	CTCF	chr3:121312200-121312350	GM12867	blood:	n/a	chr3:121312270-121312283
31	CTCF	chr3:121312120-121312270	GM12864	blood:	n/a	n/a
32	CTCF	chr3:121312260-121312410	NHEK	skin:	n/a	chr3:121312270-121312283
33	CTCF	chr3:121312220-121312370	GM12866	blood:	n/a	chr3:121312270-121312283
34	CTCF	chr3:121312141-121312423	K562	blood:	n/a	chr3:121312270-121312283
35	CTCF	chr3:121312231-121312339	K562	blood:	n/a	chr3:121312270-121312283
36	CTCF	chr3:121312160-121312310	GM12865	blood:	n/a	chr3:121312270-121312283
37	CTCF	chr3:121312140-121312290	GM06990	blood:	n/a	chr3:121312270-121312283
38	CTCF	chr3:121312200-121312350	HEEpiC	esophagus:	n/a	chr3:121312270-121312283
39	CTCF	chr3:121318009-121318084	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr3:121312200-121312350	WERI-Rb-1	eye:	n/a	chr3:121312270-121312283
41	CTCF	chr3:121312237-121312348	GM19240	blood:	n/a	chr3:121312270-121312283
42	CTCF	chr3:121312246-121312293	NHEK	skin:	n/a	chr3:121312270-121312283
43	CTCF	chr3:121312229-121312357	Kidney_OC	kidney:	n/a	chr3:121312270-121312283
44	CTCF	chr3:121312220-121312370	RPTEC	kidney:	n/a	chr3:121312270-121312283
45	CTCF	chr3:121312285-121312314	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr3:121312240-121312390	RPTEC	kidney:	n/a	chr3:121312270-121312283
47	CTCF	chr3:121312192-121312371	H1-hESC	embryonic stem cell:	n/a	chr3:121312270-121312283
48	E2F4	chr3:121313629-121313695	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr3:121312027-121312704	H1-hESC	embryonic stem cell:	n/a	chr3:121312528-121312542
50	FOS	chr3:121316270-121316584	MCF10A-Er-Src	breast:	n/a	chr3:121316429-121316441 chr3:121316431-121316440 chr3:121316430-121316439

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:121312241-121312291	ovcar-3	ovarian:	n/a
2	chr3:121312164-121312214	HCT-116	colon:	n/a
3	chr3:121312241-121312291	ovcar-3	ovarian:	n/a
4	chr3:121312164-121312214	HCT-116	colon:	n/a
5	chr3:121312127-121312177	PFSK-1	brain:	n/a
6	chr3:121312127-121312177	AG09319	gingival:	n/a
7	chr3:121312127-121312177	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:121310923-121310973	GM12892	blood:	n/a
9	chr3:121310923-121310973	U87	brain:	n/a
10	chr3:121312241-121312291	HUVEC	blood vessel:	n/a
11	chr3:121307887-121307937	AoSMC	blood vessel:	n/a
12	chr3:121310923-121310973	Hela-S3	cervix:	n/a
13	chr3:121312164-121312214	NT2-D1	testis:	n/a
14	chr3:121310923-121310973	AG09319	gingival:	n/a
15	chr3:121312127-121312177	SKMC	muscle:	n/a
16	chr3:121310923-121310973	Caco-2	colon:	n/a
17	chr3:121307887-121307937	HAEpiC	amniotic membrane:	n/a
18	chr3:121312241-121312291	GM12891	blood:	n/a
19	chr3:121312164-121312214	U87	brain:	n/a
20	chr3:121307887-121307937	ECC-1	luminal epithelium:	n/a
21	chr3:121307887-121307937	HCT-116	colon:	n/a
22	chr3:121312164-121312214	RPTEC	kidney:	n/a
23	chr3:121311075-121311125	HL-60	blood:	n/a
24	chr3:121307887-121307937	Jurkat	blood:	n/a
25	chr3:121310923-121310973	GM12891	blood:	n/a
26	chr3:121312241-121312291	A549	lung:	n/a
27	chr3:121312164-121312214	HEK293	kidney:	embryo
28	chr3:121312127-121312177	H1-hESC	embryonic stem cell:	embryo
29	chr3:121312127-121312177	HEK293	kidney:	embryo
30	chr3:121312127-121312177	GM12878	blood:	n/a
31	chr3:121307887-121307937	GM12892	blood:	n/a
32	chr3:121312164-121312214	Hela-S3	cervix:	n/a
33	chr3:121310923-121310973	AG04449	skin:	fetal
34	chr3:121307887-121307937	ovcar-3	ovarian:	n/a
35	chr3:121310923-121310973	ProgFib	skin:	n/a
36	chr3:121307887-121307937	AG04450	lung:	fetal
37	chr3:121307887-121307937	HepG2	liver:	n/a
38	chr3:121311075-121311125	SKMC	muscle:	n/a
39	chr3:121311075-121311125	SK-N-SH	brain:	n/a
40	chr3:121311075-121311125	H1-hESC	embryonic stem cell:	embryo
41	chr3:121307887-121307937	BJ	skin:	n/a
42	chr3:121310923-121310973	HAEpiC	amniotic membrane:	n/a
43	chr3:121312127-121312177	GM06990	blood:	n/a
44	chr3:121312241-121312291	PANC-1	pancreas:	n/a
45	chr3:121311075-121311125	NH-A	brain:	n/a
46	chr3:121312164-121312214	HIPEpiC	eye:	n/a
47	chr3:121310923-121310973	Hepatocyte	liver:	n/a
48	chr3:121312241-121312291	NH-A	brain:	n/a
49	chr3:121307887-121307937	HIPEpiC	eye:	n/a
50	chr3:121311075-121311125	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60095074..60095939-chr3:121314935..121315693,2	MCF-7	breast:
2	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: 609 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144775023	chr3:121305055-121305056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144237895	chr3:121305061-121305062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148714358	chr3:121305062-121305063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201079029	chr3:121305063-121305064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144768421	chr3:121305065-121305066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs267599565	chr3:121305072-121305073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200387142	chr3:121305080-121305081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61750878	chr3:121305086-121305087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554335256	chr3:121305099-121305100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139699736	chr3:121305144-121305145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs112431334	chr3:121305146-121305147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145252171	chr3:121305147-121305148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574610430	chr3:121305196-121305197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138917850	chr3:121305225-121305226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs540135129	chr3:121305227-121305228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192920748	chr3:121305335-121305336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79657977	chr3:121305362-121305363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs199782325	chr3:121305371-121305372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373740963	chr3:121305376-121305377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576722757	chr3:121305416-121305417	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148566270	chr3:121305424-121305425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs199657126	chr3:121305426-121305427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531424959	chr3:121305448-121305449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541978803	chr3:121305449-121305450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562116526	chr3:121305540-121305541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527905713	chr3:121305608-121305609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115045570	chr3:121305627-121305628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116595666	chr3:121305645-121305646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35191130	chr3:121305675-121305676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550926826	chr3:121305689-121305690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185446877	chr3:121305801-121305802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527616510	chr3:121305802-121305803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145628833	chr3:121305843-121305844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567396833	chr3:121305853-121305854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535539215	chr3:121305886-121305887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547211551	chr3:121305904-121305905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555471165	chr3:121305908-121305909	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536402689	chr3:121305917-121305918	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187960668	chr3:121305943-121305944	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534000435	chr3:121305959-121305960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550019702	chr3:121306044-121306045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577063745	chr3:121306100-121306101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546159713	chr3:121306142-121306143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570101859	chr3:121306200-121306201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371788576	chr3:121306223-121306224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576132032	chr3:121306241-121306242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192964034	chr3:121306325-121306326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541917401	chr3:121306331-121306332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561834778	chr3:121306333-121306334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527843083	chr3:121306372-121306373	Weak transcription	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:210 , 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	chr3:121303800-121310400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:121304000-121309000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:121305800-121309000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:121309000-121309200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:121309000-121309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:121309000-121311600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:121309200-121310600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:121309200-121311600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:121309200-121311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:121309200-121311800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:121309400-121310600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:121310000-121310200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:121310000-121310200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:121310000-121311600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:121310200-121311000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:121310200-121311600	Enhancers	Fetal Heart	heart
18	chr3:121310200-121311600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:121310400-121311400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:121310400-121311600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:121310600-121310800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:121310600-121311600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:121310800-121311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:121311000-121313200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:121311400-121315000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr3:121311600-121311800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr3:121311600-121311800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:121311600-121311800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr3:121311600-121312000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:121311600-121312000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:121311600-121312000	Flanking Active TSS	Fetal Heart	heart
32	chr3:121311600-121312000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:121311600-121312000	Enhancers	Stomach Smooth Muscle	stomach
34	chr3:121311600-121312200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr3:121311600-121312200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr3:121311600-121312200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr3:121311600-121312200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr3:121311600-121312200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr3:121311600-121312200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:121311600-121312600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:121311600-121312600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:121311600-121312600	Enhancers	Ovary	ovary
43	chr3:121311600-121312600	Enhancers	HSMMtube	muscle
44	chr3:121311600-121313000	Active TSS	Right Ventricle	heart
45	chr3:121311800-121312000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:121311800-121312000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr3:121311800-121312000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:121311800-121312000	Enhancers	Spleen	Spleen
49	chr3:121311800-121312200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr3:121311800-121312200	Enhancers	Adipose Nuclei	Adipose

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