Variant report

Variant	nsv436292
Chromosome Location	chr1:46242759-46251916
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	BHLHE40	chr1:46247247-46247483	K562	blood:	n/a	n/a
2	CEBPB	chr1:46250583-46250961	K562	blood:	n/a	n/a
3	CEBPB	chr1:46250658-46250905	K562	blood:	n/a	n/a
4	CEBPB	chr1:46250719-46250852	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:46250715-46250908	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:46250713-46250908	A549	lung:	n/a	n/a
7	CEBPB	chr1:46250681-46250931	K562	blood:	n/a	n/a
8	CTCF	chr1:46246720-46246870	WI-38	lung:	n/a	n/a
9	CUX1	chr1:46251098-46251471	GM12878	blood:	n/a	n/a
10	EBF1	chr1:46251275-46251511	GM12878	blood:	n/a	n/a
11	EBF1	chr1:46251329-46251522	GM12878	blood:	n/a	n/a
12	ELK1	chr1:46251258-46251622	GM12878	blood:	n/a	n/a
13	FOXA1	chr1:46246580-46246834	HepG2	liver:	n/a	n/a
14	FOXA1	chr1:46246602-46246827	HepG2	liver:	n/a	n/a
15	FOXA2	chr1:46246538-46246804	HepG2	liver:	n/a	n/a
16	HEY1	chr1:46246996-46247243	K562	blood:	n/a	n/a
17	IRF3	chr1:46251465-46251468	GM12878	blood:	n/a	n/a
18	MAX	chr1:46251260-46251645	NB4	blood:	n/a	n/a
19	MYC	chr1:46251243-46251588	NB4	blood:	n/a	n/a
20	NFYB	chr1:46251335-46251588	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:46247070-46247215	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:46249684-46249770	K562	blood:	n/a	n/a
23	POLR2A	chr1:46247001-46247259	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:46248540-46248585	K562	blood:	n/a	n/a
25	POLR2A	chr1:46251195-46251620	HL-60	blood:	n/a	n/a
26	RUNX3	chr1:46251240-46251550	GM12878	blood:	n/a	n/a
27	SRF	chr1:46251336-46251536	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
28	SRF	chr1:46251304-46251553	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
29	SRF	chr1:46251337-46251513	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
30	SRF	chr1:46251329-46251514	K562	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
31	SRF	chr1:46251328-46251533	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
32	USF1	chr1:46251361-46251608	K562	blood:	n/a	n/a
33	USF2	chr1:46251335-46251667	GM12878	blood:	n/a	n/a
34	ZNF384	chr1:46248037-46248054	K562	blood:	n/a	n/a
35	ZNF384	chr1:46250611-46250909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46241636..46244183-chr1:46246863..46248467,2	K562	blood:
2	chr1:46233422..46236308-chr1:46241292..46243048,2	K562	blood:
3	chr1:46152331..46153862-chr1:46251195..46252754,2	K562	blood:
4	chr1:46244095..46246858-chr1:46259918..46262871,2	K562	blood:

Variant related genes	Relation type
MAST2	TF binding region
ENSG00000236111	TF binding region
ENSG00000159596	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000236111	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183587316	chr1:46242797-46242798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561800854	chr1:46242880-46242881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541138228	chr1:46242889-46242890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12565914	chr1:46242918-46242919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529089441	chr1:46242927-46242928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562332997	chr1:46242928-46242929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565785970	chr1:46242930-46242931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149267835	chr1:46242934-46242935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369611021	chr1:46242950-46242951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189035578	chr1:46242963-46242964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192598461	chr1:46242999-46243000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537085272	chr1:46243013-46243014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373393645	chr1:46243070-46243071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567467688	chr1:46243099-46243100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534842383	chr1:46243144-46243145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564521911	chr1:46243145-46243146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373717331	chr1:46243208-46243209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13374674	chr1:46243216-46243217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545704258	chr1:46243251-46243252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533135000	chr1:46243289-46243290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557396593	chr1:46243334-46243335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182247229	chr1:46243354-46243355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4660884	chr1:46243355-46243356	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186860916	chr1:46243379-46243380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528997929	chr1:46243387-46243388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377244812	chr1:46243435-46243436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111671766	chr1:46243441-46243442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559512378	chr1:46243442-46243443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531543736	chr1:46243454-46243455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550752673	chr1:46243455-46243456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551640113	chr1:46243471-46243472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569658685	chr1:46243486-46243487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191690614	chr1:46243533-46243534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184908369	chr1:46243536-46243537	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567382168	chr1:46243588-46243589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188216575	chr1:46243589-46243590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372201653	chr1:46243671-46243672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367641877	chr1:46243732-46243733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553264649	chr1:46243737-46243738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368548611	chr1:46243738-46243739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4660885	chr1:46243756-46243757	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs376603665	chr1:46243788-46243789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193091045	chr1:46243795-46243796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114827863	chr1:46243810-46243811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576054253	chr1:46243815-46243816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548798740	chr1:46243849-46243850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142567009	chr1:46243863-46243864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565714855	chr1:46243944-46243945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567769156	chr1:46243945-46243946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185361153	chr1:46243956-46243957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46244600-46244800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:46246400-46247000	Enhancers	HepG2	liver
3	chr1:46250000-46251000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:46250200-46251200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:46250200-46251200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:46250200-46251200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:46250200-46251200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:46250400-46250600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:46250400-46251200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:46250400-46252400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:46250400-46252400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:46250600-46251200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:46250600-46251200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:46250600-46251200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:46250600-46252800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:46250800-46251200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:46251000-46251200	Enhancers	Primary T cells from cord blood	blood
18	chr1:46251000-46251600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:46251000-46251600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:46251000-46251600	Enhancers	GM12878-XiMat	blood
21	chr1:46251000-46251800	Enhancers	Dnd41	blood
22	chr1:46251000-46252000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:46251200-46251600	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:46251200-46251600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:46251200-46251600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr1:46251200-46251600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:46251200-46251600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr1:46251200-46251600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:46251200-46251600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:46251200-46251600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:46251200-46251600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:46251200-46251600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:46251200-46251600	Enhancers	Fetal Thymus	thymus
34	chr1:46251200-46251600	Enhancers	Thymus	Thymus
35	chr1:46251200-46251600	Enhancers	K562	blood
36	chr1:46251200-46251800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:46251200-46251800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:46251200-46251800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:46251200-46252400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:46251600-46252000	Active TSS	Primary T cells from cord blood	blood
41	chr1:46251600-46252000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:46251600-46252200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr1:46251600-46252200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:46251600-46252400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:46251600-46252400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:46251600-46252600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:46251600-46253000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:46251600-46253000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:46251600-46253600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:46251600-46253600	Weak transcription	GM12878-XiMat	blood

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