Variant report

Variant	esv1794222
Chromosome Location	chr1:92711407-92735359
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	chr1:92715276-92715280	K562	blood:	n/a	n/a
2	CEBPB	chr1:92726400-92726574	K562	blood:	n/a	chr1:92726435-92726448 chr1:92726435-92726446 chr1:92726437-92726446 chr1:92726435-92726448 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726448
3	CEBPB	chr1:92717841-92718018	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:92726346-92726574	IMR90	lung:	n/a	chr1:92726435-92726448 chr1:92726435-92726446 chr1:92726437-92726446 chr1:92726435-92726448 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726448
5	CEBPB	chr1:92726352-92726563	HepG2	liver:	n/a	chr1:92726435-92726448 chr1:92726435-92726446 chr1:92726437-92726446 chr1:92726435-92726448 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726448
6	CTCF	chr1:92725428-92725455	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr1:92721315-92721367	GM10266	blood:	n/a	n/a
8	CTCF	chr1:92717829-92717929	ProgFib	skin:	n/a	n/a
9	CTCF	chr1:92734255-92734291	Kidney_OC	kidney:	n/a	n/a
10	CUX1	chr1:92730186-92730192	GM12878	blood:	n/a	n/a
11	E2F4	chr1:92725040-92725240	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr1:92715238-92715295	K562	blood:	n/a	n/a
13	EP300	chr1:92716663-92716667	K562	blood:	n/a	n/a
14	FOS	chr1:92724895-92725322	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
15	FOS	chr1:92724898-92725298	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
16	FOS	chr1:92729417-92729767	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:92724935-92725211	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
18	FOS	chr1:92729496-92729777	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:92729492-92729776	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:92724998-92725254	HUVEC	blood vessel:	n/a	chr1:92725074-92725085
21	FOS	chr1:92724914-92725267	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
22	GATA3	chr1:92713617-92714033	SH-SY5Y	brain:	n/a	n/a
23	IRF1	chr1:92726429-92726430	K562	blood:	n/a	n/a
24	IRF1	chr1:92715996-92716002	K562	blood:	n/a	n/a
25	JUN	chr1:92732078-92732183	K562	blood:	n/a	n/a
26	JUND	chr1:92729561-92729715	K562	blood:	n/a	chr1:92729600-92729611
27	JUND	chr1:92729530-92729719	HepG2	liver:	n/a	chr1:92729600-92729611
28	MAFF	chr1:92719201-92719372	HepG2	liver:	n/a	n/a
29	MAFF	chr1:92727285-92727452	HepG2	liver:	n/a	chr1:92727325-92727343
30	MAFK	chr1:92727194-92727488	IMR90	lung:	n/a	chr1:92727327-92727342
31	MAFK	chr1:92719217-92719358	HepG2	liver:	n/a	n/a
32	MAFK	chr1:92728759-92728981	HepG2	liver:	n/a	n/a
33	MAFK	chr1:92727200-92727457	HepG2	liver:	n/a	chr1:92727327-92727342
34	MAFK	chr1:92719259-92719421	HepG2	liver:	n/a	n/a
35	MAFK	chr1:92727202-92727494	HepG2	liver:	n/a	chr1:92727327-92727342
36	POLR2A	chr1:92724919-92725115	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr1:92728839-92728997	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:92713915-92713943	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:92718148-92718332	MCF10A-Er-Src	breast:	n/a	n/a
40	RFX5	chr1:92716273-92716319	K562	blood:	n/a	n/a
41	STAT3	chr1:92713789-92713989	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr1:92725044-92725133	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
43	STAT3	chr1:92724957-92725183	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
44	STAT3	chr1:92724861-92725153	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
45	STAT3	chr1:92724870-92725114	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
46	TAL1	chr1:92715214-92715512	K562	blood:	n/a	n/a
47	TEAD4	chr1:92715130-92715491	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:92724491..92726278-chr1:92728631..92730987,2	K562	blood:
2	chr1:92726438..92729412-chr1:92763997..92765974,2	K562	blood:
3	chr1:92724491..92726278-chr1:92728631..92730987,2	K562	blood:
4	chr1:92734882..92736683-chr1:92742818..92746079,3	K562	blood:
5	chr1:92704937..92705925-chr1:92715140..92715847,2	K562	blood:

Variant related genes	Relation type
GLMN	TF binding region
ENSG00000122484	chromatin interactions
ENSG00000174842	chromatin interactions

Extended variants
information (count: 866 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:866 , 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	rs6694248	chr1:92711407-92711408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59912348	chr1:92711414-92711415	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537347113	chr1:92711443-92711444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566950804	chr1:92711524-92711525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570017645	chr1:92711530-92711531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555521670	chr1:92711621-92711622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573526969	chr1:92711625-92711626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183315650	chr1:92711634-92711635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2046619	chr1:92711697-92711698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187685512	chr1:92711705-92711706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577177426	chr1:92711708-92711709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114059830	chr1:92711726-92711727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535592501	chr1:92711805-92711806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572091757	chr1:92711832-92711833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542386766	chr1:92711854-92711855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150360012	chr1:92711883-92711884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529529289	chr1:92711885-92711886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551257208	chr1:92711889-92711890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192705284	chr1:92711906-92711907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533713996	chr1:92711914-92711915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs41301245	chr1:92711944-92711945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2046620	chr1:92711972-92711973	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534277037	chr1:92711995-92711996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370159264	chr1:92712047-92712048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558601979	chr1:92712052-92712053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184930411	chr1:92712053-92712054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143223249	chr1:92712095-92712096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372862537	chr1:92712115-92712116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567089191	chr1:92712120-92712121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537658508	chr1:92712154-92712155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141468230	chr1:92712159-92712160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138005763	chr1:92712174-92712175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202226890	chr1:92712176-92712177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112947595	chr1:92712203-92712204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369814978	chr1:92712207-92712208	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368455445	chr1:92712256-92712257	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs974924	chr1:92712266-92712267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571970759	chr1:92712287-92712288	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371260645	chr1:92712372-92712373	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554717080	chr1:92712395-92712396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188290801	chr1:92712406-92712407	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544813739	chr1:92712414-92712415	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563113276	chr1:92712445-92712446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533659666	chr1:92712473-92712474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113775598	chr1:92712502-92712503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560509557	chr1:92712508-92712509	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527699482	chr1:92712513-92712514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549417197	chr1:92712523-92712524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567424928	chr1:92712526-92712527	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531732627	chr1:92712532-92712533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:92708600-92712000	Weak transcription	Osteobl	bone
6	chr1:92708800-92712200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:92709000-92711600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:92709000-92711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:92709000-92711600	Weak transcription	HUVEC	blood vessel
10	chr1:92709000-92712000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:92709000-92712200	Weak transcription	Fetal Lung	lung
12	chr1:92709000-92712200	Weak transcription	Fetal Stomach	stomach
13	chr1:92709000-92717400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:92709000-92718800	Weak transcription	Lung	lung
15	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:92709200-92712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:92709200-92718800	Weak transcription	Pancreas	Pancrea
19	chr1:92709400-92712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:92709400-92712200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:92709400-92712400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:92709400-92735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:92709600-92730800	Weak transcription	Hela-S3	cervix
24	chr1:92710000-92711600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:92710000-92711600	Weak transcription	Primary T cells from cord blood	blood
26	chr1:92710000-92711600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:92710000-92711600	Weak transcription	Liver	Liver
28	chr1:92710000-92712200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:92710000-92712200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:92710000-92712200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:92710000-92712200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:92710000-92712200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:92710000-92712200	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:92710000-92712200	Weak transcription	Ovary	ovary
35	chr1:92710000-92712200	Weak transcription	Thymus	Thymus
36	chr1:92710000-92717800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:92710000-92737600	Weak transcription	HSMM	muscle
38	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:92710200-92715000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:92710200-92717400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:92710200-92717800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:92710200-92717800	Weak transcription	Placenta	Placenta
43	chr1:92710200-92718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:92710200-92718800	Weak transcription	Left Ventricle	heart
45	chr1:92710200-92718800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:92710400-92712800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:92710400-92713200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:92710400-92718600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:92710400-92724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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