Variant report

Variant	esv1844046
Chromosome Location	chr1:158833750-158891391
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	CBX3	chr1:158890208-158890428	K562	blood:	n/a	n/a
2	CBX3	chr1:158880581-158880800	K562	blood:	n/a	n/a
3	CBX3	chr1:158890181-158890418	K562	blood:	n/a	n/a
4	CEBPB	chr1:158889055-158889088	H1-hESC	embryonic stem cell:	n/a	chr1:158889069-158889080
5	CEBPB	chr1:158866924-158867269	K562	blood:	n/a	n/a
6	CEBPB	chr1:158889006-158889117	HepG2	liver:	n/a	chr1:158889069-158889080
7	CEBPB	chr1:158866954-158867118	A549	lung:	n/a	n/a
8	CTCF	chr1:158849632-158849667	Fibrobl	skin:	n/a	n/a
9	CTCF	chr1:158853340-158853490	NHEK	skin:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
10	CTCF	chr1:158853349-158853423	GM10248	blood:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
11	CTCF	chr1:158853260-158853410	GM12878	blood:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
12	CTCF	chr1:158853320-158853470	HEEpiC	esophagus:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
13	CTCF	chr1:158853340-158853490	HMEC	breast:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
14	CTCF	chr1:158853277-158853555	GM12878	blood:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
15	CTCF	chr1:158853378-158853407	NHEK	skin:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
16	CTCF	chr1:158853220-158853370	HMEC	breast:	n/a	n/a
17	CTCF	chr1:158857968-158857994	GM13976	blood:	n/a	n/a
18	CTCF	chr1:158853312-158853363	Lung_OC	lung:	n/a	n/a
19	CTCF	chr1:158853346-158853414	Spleen_OC	spleen:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
20	CTCF	chr1:158891172-158891229	GM10248	blood:	n/a	n/a
21	CTCF	chr1:158853300-158853450	HEEpiC	esophagus:	n/a	chr1:158853388-158853396 chr1:158853388-158853401
22	CTCF	chr1:158836792-158836829	LNCaP	prostate:	n/a	n/a
23	E2F4	chr1:158850812-158851011	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr1:158844423-158844675	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr1:158840302-158840474	K562	blood:	n/a	n/a
26	EBF1	chr1:158841258-158841567	GM12878	blood:	n/a	chr1:158841399-158841410
27	EGR1	chr1:158840348-158840523	K562	blood:	n/a	n/a
28	FAM48A	chr1:158852408-158852425	GM12878	blood:	n/a	n/a
29	FOS	chr1:158886032-158886176	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:158853248-158853615	MCF10A-Er-Src	breast:	n/a	chr1:158853327-158853336
31	FOS	chr1:158853231-158853542	MCF10A-Er-Src	breast:	n/a	chr1:158853327-158853336
32	FOS	chr1:158853274-158853441	MCF10A-Er-Src	breast:	n/a	chr1:158853327-158853336
33	FOXA1	chr1:158855589-158855781	T-47D	breast:	n/a	n/a
34	FOXA1	chr1:158886328-158886620	T-47D	breast:	n/a	chr1:158886472-158886487 chr1:158886497-158886512
35	FOXA1	chr1:158855452-158855761	T-47D	breast:	n/a	n/a
36	FOXA2	chr1:158856216-158856594	A549	lung:	n/a	n/a
37	FOXA2	chr1:158855997-158856654	A549	lung:	n/a	n/a
38	GATA3	chr1:158867973-158868114	SH-SY5Y	brain:	n/a	n/a
39	IKZF1	chr1:158870904-158871079	GM12878	blood:	n/a	n/a
40	IRF3	chr1:158864499-158864522	GM12878	blood:	n/a	n/a
41	KAP1	chr1:158890289-158890519	K562	blood:	n/a	n/a
42	KAP1	chr1:158880162-158880838	K562	blood:	n/a	n/a
43	KAP1	chr1:158882021-158882437	HEK293	kidney:	n/a	n/a
44	MAFF	chr1:158841671-158842036	HepG2	liver:	n/a	chr1:158841970-158841988 chr1:158841969-158841983
45	MAFK	chr1:158889502-158889674	HepG2	liver:	n/a	chr1:158889599-158889614
46	MAFK	chr1:158887413-158887592	HepG2	liver:	n/a	n/a
47	MAFK	chr1:158841599-158842097	HepG2	liver:	n/a	chr1:158841974-158841988 chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841675-158841689 chr1:158841676-158841687 chr1:158841677-158841688 chr1:158841971-158841986 chr1:158841626-158841636 chr1:158841676-158841692 chr1:158841677-158841688 chr1:158841971-158841987 chr1:158841976-158841987 chr1:158841676-158841687
48	MAFK	chr1:158885927-158885935	Hela-S3	cervix:	n/a	n/a
49	MAFK	chr1:158841640-158841987	Hela-S3	cervix:	n/a	chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841675-158841689 chr1:158841676-158841687 chr1:158841677-158841688 chr1:158841971-158841986 chr1:158841676-158841692 chr1:158841677-158841688 chr1:158841971-158841987 chr1:158841976-158841987 chr1:158841676-158841687
50	MAFK	chr1:158841611-158842096	HepG2	liver:	n/a	chr1:158841974-158841988 chr1:158841966-158841986 chr1:158841975-158841986 chr1:158841976-158841987 chr1:158841675-158841689 chr1:158841676-158841687 chr1:158841677-158841688 chr1:158841971-158841986 chr1:158841626-158841636 chr1:158841676-158841692 chr1:158841677-158841688 chr1:158841971-158841987 chr1:158841976-158841987 chr1:158841676-158841687

No.	Distal block	Cell Line	Cell type
1	chr1:158843130..158845633-chr1:158846139..158848183,2	K562	blood:
2	chr1:158843130..158845633-chr1:158845939..158848183,3	K562	blood:
3	chr1:158842732..158844535-chr1:158852060..158853613,2	MCF-7	breast:
4	chr1:158846369..158849103-chr1:158850583..158854500,4	K562	blood:
5	chr1:158821520..158824176-chr1:158832622..158835555,2	K562	blood:
6	chr1:158722912..158725660-chr1:158876533..158879474,2	K562	blood:
7	chr1:158843130..158845633-chr1:158845939..158848183,3	K562	blood:
8	chr1:158842732..158844535-chr1:158852060..158853613,2	MCF-7	breast:
9	chr1:158843130..158845633-chr1:158846139..158848183,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MNDA-1	chr1:158849834-158849979	NONHSAT006992
2	lnc-MNDA-1	chr1:158850520-158850686	NONHSAT006992
3	lnc-MNDA-1	chr1:158853144-158853290	NONHSAT006992
4	lnc-MNDA-1	chr1:158848536-158848798	NONHSAT006992

Variant related genes	Relation type
ENSG00000229849	TF binding region
ENSG00000180433	chromatin interactions
ENSG00000229849	chromatin interactions

Extended variants
information (count: 544 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2188114	chr1:158833750-158833751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567613710	chr1:158833833-158833834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535164384	chr1:158833837-158833838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146410665	chr1:158833847-158833848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571449850	chr1:158833921-158833922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538921504	chr1:158833928-158833929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116275278	chr1:158833957-158833958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184332145	chr1:158833961-158833962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542596025	chr1:158833980-158833981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554558648	chr1:158833982-158833983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369759421	chr1:158833983-158833984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140804495	chr1:158833990-158833991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146146838	chr1:158834032-158834033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540369167	chr1:158834041-158834042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368919022	chr1:158834053-158834054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559668960	chr1:158834070-158834071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12564382	chr1:158834101-158834102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189230053	chr1:158834125-158834126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77366053	chr1:158834127-158834128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16841213	chr1:158834138-158834139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77499689	chr1:158834177-158834178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2852703	chr1:158834189-158834190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150100095	chr1:158834199-158834200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181237350	chr1:158834208-158834209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185581714	chr1:158834222-158834223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138638834	chr1:158834230-158834231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188902866	chr1:158834232-158834233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148911518	chr1:158834233-158834234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111419207	chr1:158834234-158834235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536589872	chr1:158834258-158834259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554265161	chr1:158834263-158834264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538561889	chr1:158834264-158834265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572822812	chr1:158834284-158834285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533635057	chr1:158834288-158834289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559931502	chr1:158834312-158834313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376164427	chr1:158834333-158834334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2852704	chr1:158834379-158834380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138132162	chr1:158834391-158834392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535006844	chr1:158834450-158834451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116190685	chr1:158834451-158834452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572006542	chr1:158834468-158834469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575531708	chr1:158834499-158834500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181397556	chr1:158834509-158834510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55703423	chr1:158834529-158834530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571946995	chr1:158834583-158834584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528453908	chr1:158834604-158834605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2518497	chr1:158834605-158834606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565331933	chr1:158834621-158834622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532659571	chr1:158834632-158834633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550782959	chr1:158834693-158834694	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Diabetes mellitus	21357537	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158833600-158835000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:158834000-158834400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:158834200-158834600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:158834200-158834600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:158834200-158834600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:158834200-158834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:158834200-158834600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:158834200-158834600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:158834200-158834800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:158834200-158834800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:158834400-158834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:158844800-158845600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:158844800-158845600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:158845000-158845800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:158845000-158845800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:158868200-158869400	Enhancers	NHEK	skin
17	chr1:158868400-158868800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:158885400-158886600	Enhancers	HMEC	breast
19	chr1:158885400-158886600	Enhancers	NHEK	skin
20	chr1:158885400-158886800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:158885600-158886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:158885600-158886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:158885800-158886600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:158890000-158890600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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