Variant report

Variant	esv17370
Chromosome Location	chr1:46244285-46251346
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	chr1:46250713-46250908	A549	lung:	n/a	n/a
4	CEBPB	chr1:46250715-46250908	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:46250658-46250905	K562	blood:	n/a	n/a
6	CEBPB	chr1:46250719-46250852	H1-hESC	embryonic stem cell:	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	chr1:46251329-46251522	GM12878	blood:	n/a	n/a
11	EBF1	chr1:46251275-46251511	GM12878	blood:	n/a	n/a
12	ELK1	chr1:46251258-46251622	GM12878	blood:	n/a	n/a
13	FOXA1	chr1:46246602-46246827	HepG2	liver:	n/a	n/a
14	FOXA1	chr1:46246580-46246834	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	MAX	chr1:46251260-46251645	NB4	blood:	n/a	n/a
18	MYC	chr1:46251243-46251588	NB4	blood:	n/a	n/a
19	NFYB	chr1:46251335-46251588	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:46247070-46247215	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:46248540-46248585	K562	blood:	n/a	n/a
22	POLR2A	chr1:46247001-46247259	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:46251195-46251620	HL-60	blood:	n/a	n/a
24	POLR2A	chr1:46249684-46249770	K562	blood:	n/a	n/a
25	RUNX3	chr1:46251240-46251550	GM12878	blood:	n/a	n/a
26	SRF	chr1:46251336-46251536	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
27	SRF	chr1:46251304-46251553	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
28	SRF	chr1:46251337-46251513	GM12878	blood:	n/a	chr1:46251454-46251471 chr1:46251456-46251467
29	SRF	chr1:46251328-46251533	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	USF2	chr1:46251335-46251667	GM12878	blood:	n/a	n/a
32	ZNF384	chr1:46250611-46250909	K562	blood:	n/a	n/a
33	ZNF384	chr1:46248037-46248054	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46152331..46153862-chr1:46251195..46252754,2	K562	blood:
2	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

Extended variants
information (count: 79 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553032774	chr1:46244702-46244703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12031623	chr1:46244725-46244726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577670939	chr1:46244799-46244800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71587086	chr1:46246428-46246429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577215681	chr1:46246436-46246437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538203776	chr1:46246441-46246442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569425214	chr1:46246443-46246444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574959110	chr1:46246456-46246457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541936635	chr1:46246474-46246475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376352897	chr1:46246529-46246530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560671596	chr1:46246552-46246553	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533247018	chr1:46246561-46246562	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114011619	chr1:46246608-46246609	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546422566	chr1:46246627-46246628	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538453794	chr1:46246697-46246698	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370453932	chr1:46246714-46246715	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531892466	chr1:46246767-46246768	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550127016	chr1:46246796-46246797	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12033589	chr1:46246807-46246808	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs529667192	chr1:46246809-46246810	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547960336	chr1:46246821-46246822	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566600793	chr1:46246846-46246847	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533703389	chr1:46246869-46246870	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150325171	chr1:46249688-46249689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs386366874	chr1:46249700-46249701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs140523926	chr1:46249707-46249708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs386366875	chr1:46249718-46249719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs377543687	chr1:46249719-46249720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs184738903	chr1:46249720-46249721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200819722	chr1:46249721-46249722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560320320	chr1:46249730-46249731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs12239318	chr1:46249744-46249745	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs180870760	chr1:46250000-46250001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10789474	chr1:46250040-46250041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs184452683	chr1:46250081-46250082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77112504	chr1:46250117-46250118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145868909	chr1:46250162-46250163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558095811	chr1:46250164-46250165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532785265	chr1:46250180-46250181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553348209	chr1:46250220-46250221	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74227051	chr1:46250291-46250292	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537004715	chr1:46250318-46250319	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112198988	chr1:46250365-46250366	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35160148	chr1:46250372-46250373	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146736480	chr1:46250373-46250374	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397814743	chr1:46250392-46250393	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79208018	chr1:46250393-46250394	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555076299	chr1:46250436-46250437	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs368523230	chr1:46250557-46250558	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs567328009	chr1:46250566-46250567	Enhancers Bivalent Enhancer	n/a	n/a	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:39 , 50 per page) page: 1

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

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