Variant report

Variant	esv274994
Chromosome Location	chr1:221512623-221519858
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	CEBPB	chr1:221518220-221518375	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:221518145-221518487	Hela-S3	cervix:	n/a	chr1:221518209-221518222
3	EP300	chr1:221517367-221518478	SK-N-SH	brain:	n/a	n/a
4	FOS	chr1:221518103-221518466	MCF10A-Er-Src	breast:	n/a	chr1:221518266-221518274 chr1:221518266-221518274 chr1:221518266-221518273 chr1:221518267-221518278 chr1:221518313-221518321 chr1:221518313-221518320
5	FOS	chr1:221518112-221518447	MCF10A-Er-Src	breast:	n/a	chr1:221518266-221518274 chr1:221518266-221518274 chr1:221518266-221518273 chr1:221518267-221518278 chr1:221518313-221518321 chr1:221518313-221518320
6	FOS	chr1:221518101-221518444	MCF10A-Er-Src	breast:	n/a	chr1:221518266-221518274 chr1:221518266-221518274 chr1:221518266-221518273 chr1:221518267-221518278 chr1:221518313-221518321 chr1:221518313-221518320
7	FOS	chr1:221518130-221518440	MCF10A-Er-Src	breast:	n/a	chr1:221518266-221518274 chr1:221518266-221518274 chr1:221518266-221518273 chr1:221518267-221518278 chr1:221518313-221518321 chr1:221518313-221518320
8	GATA2	chr1:221517696-221517972	SH-SY5Y	brain:	n/a	n/a
9	MAFK	chr1:221513000-221513263	HepG2	liver:	n/a	n/a
10	MAFK	chr1:221519781-221519846	HepG2	liver:	n/a	chr1:221519788-221519805
11	MAFK	chr1:221513015-221513169	IMR90	lung:	n/a	n/a
12	MAFK	chr1:221512964-221513232	HepG2	liver:	n/a	n/a
13	MYC	chr1:221518120-221518321	MCF10A-Er-Src	breast:	n/a	chr1:221518266-221518275
14	MYC	chr1:221518156-221518334	MCF10A-Er-Src	breast:	n/a	chr1:221518266-221518275
15	POLR2A	chr1:221518846-221519098	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:221512667-221512739	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr1:221518480-221518513	GM12878	blood:	n/a	n/a
18	RAD21	chr1:221518107-221518317	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr1:221518155-221518344	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr1:221518169-221518430	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr1:221518181-221518433	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr1:221513555-221513731	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221477968..221479650-chr1:221516284..221518358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234754	TF binding region

Extended variants
information (count: 252 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189244955	chr1:221512642-221512643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572958639	chr1:221512643-221512644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182329000	chr1:221512657-221512658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555417155	chr1:221512736-221512737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573684044	chr1:221512757-221512758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544229030	chr1:221512760-221512761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111378233	chr1:221512761-221512762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190592067	chr1:221512788-221512789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545182102	chr1:221512945-221512946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370330986	chr1:221512973-221512974	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs557380132	chr1:221513028-221513029	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs5781217	chr1:221513049-221513050	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs397861614	chr1:221513059-221513060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs527925941	chr1:221513146-221513147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs149877772	chr1:221513147-221513148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146466064	chr1:221513198-221513199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs140862497	chr1:221513202-221513203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs6690986	chr1:221513236-221513237	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554549788	chr1:221513273-221513274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574789431	chr1:221513350-221513351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144799952	chr1:221513361-221513362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557617001	chr1:221513366-221513367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566652199	chr1:221513369-221513370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533782959	chr1:221513383-221513384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555222817	chr1:221513420-221513421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146715664	chr1:221513423-221513424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116789696	chr1:221513432-221513433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143617501	chr1:221513491-221513492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577617867	chr1:221513549-221513550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116710840	chr1:221513556-221513557	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114609372	chr1:221513557-221513558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539894353	chr1:221513580-221513581	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76460223	chr1:221513589-221513590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542877903	chr1:221513685-221513686	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs180987225	chr1:221513686-221513687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532006438	chr1:221513725-221513726	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369232221	chr1:221513733-221513734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115442254	chr1:221513766-221513767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568870132	chr1:221513772-221513773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532832088	chr1:221513784-221513785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61816983	chr1:221513870-221513871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551442240	chr1:221513887-221513888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185568813	chr1:221513923-221513924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533911115	chr1:221514005-221514006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372931932	chr1:221514007-221514008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567132921	chr1:221514039-221514040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148059015	chr1:221514065-221514066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537701600	chr1:221514115-221514116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556084869	chr1:221514120-221514121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577961359	chr1:221514179-221514180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221510800-221516800	Weak transcription	NHDF-Ad	bronchial
2	chr1:221511200-221516200	Weak transcription	Fetal Lung	lung
3	chr1:221511400-221516600	Weak transcription	Hela-S3	cervix
4	chr1:221514400-221517000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:221515800-221516800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:221516200-221517000	Enhancers	Fetal Lung	lung
7	chr1:221516600-221516800	Enhancers	Hela-S3	cervix
8	chr1:221516800-221517000	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:221516800-221517000	Enhancers	NHDF-Ad	bronchial
10	chr1:221516800-221517800	Weak transcription	Hela-S3	cervix
11	chr1:221517000-221517400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:221517000-221517600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:221517000-221517800	Weak transcription	NHDF-Ad	bronchial
14	chr1:221517000-221518600	Enhancers	Brain Substantia Nigra	brain
15	chr1:221517000-221519000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:221517600-221518200	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:221517600-221518800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:221517800-221518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:221517800-221518200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:221517800-221518600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:221517800-221518800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:221517800-221518800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:221517800-221518800	Enhancers	HMEC	breast
24	chr1:221517800-221518800	Enhancers	NHDF-Ad	bronchial
25	chr1:221517800-221518800	Enhancers	Osteobl	bone
26	chr1:221517800-221519000	Enhancers	Hela-S3	cervix
27	chr1:221518000-221518800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:221518000-221518800	Enhancers	HSMM	muscle
29	chr1:221518600-221518800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:221518800-221523400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:221518800-221523600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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