Variant report

Variant	esv3435985
Chromosome Location	chr1:246980654-246983827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:246981107-246981306	K562	blood:	n/a	n/a
2	BHLHE40	chr1:246981086-246981455	K562	blood:	n/a	n/a
3	BRCA1	chr1:246981085-246981462	HepG2	liver:	n/a	n/a
4	BRCA1	chr1:246981086-246981459	GM12878	blood:	n/a	n/a
5	CEBPB	chr1:246981256-246981454	K562	blood:	n/a	n/a
6	CHD2	chr1:246981088-246981468	HepG2	liver:	n/a	n/a
7	CHD2	chr1:246981255-246981302	K562	blood:	n/a	n/a
8	CTCF	chr1:246981199-246981365	GM12891	blood:	n/a	n/a
9	CTCF	chr1:246981213-246981304	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr1:246982456-246982541	GM20000	blood:	n/a	n/a
11	CTCF	chr1:246981214-246981365	GM12892	blood:	n/a	n/a
12	CTCF	chr1:246981160-246981310	GM12867	blood:	n/a	n/a
13	CTCF	chr1:246981202-246981377	GM19238	blood:	n/a	n/a
14	CTCF	chr1:246981101-246981290	K562	blood:	n/a	n/a
15	CTCF	chr1:246981193-246981338	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:246981140-246981290	K562	blood:	n/a	n/a
17	CTCF	chr1:246981166-246981387	GM19239	blood:	n/a	n/a
18	CUX1	chr1:246981256-246981456	K562	blood:	n/a	n/a
19	ELK1	chr1:246981086-246981290	K562	blood:	n/a	n/a
20	EP300	chr1:246981084-246981466	HepG2	liver:	n/a	n/a
21	GTF2F1	chr1:246981105-246981452	K562	blood:	n/a	n/a
22	GTF2F1	chr1:246981101-246981456	H1-hESC	embryonic stem cell:	n/a	n/a
23	HCFC1	chr1:246981250-246981309	K562	blood:	n/a	n/a
24	JUND	chr1:246981271-246981287	K562	blood:	n/a	n/a
25	MAFF	chr1:246981119-246981284	K562	blood:	n/a	n/a
26	MAFK	chr1:246981084-246981462	HepG2	liver:	n/a	n/a
27	MAFK	chr1:246981099-246981284	K562	blood:	n/a	n/a
28	MAZ	chr1:246981085-246981458	HepG2	liver:	n/a	n/a
29	MAZ	chr1:246981269-246981282	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr1:246981107-246981449	K562	blood:	n/a	n/a
31	MYC	chr1:246981271-246981306	HepG2	liver:	n/a	n/a
32	MYC	chr1:246981266-246981306	MCF-7	breast:	n/a	n/a
33	MYC	chr1:246981256-246981370	GM12878	blood:	n/a	n/a
34	MYC	chr1:246981269-246981303	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr1:246981120-246981400	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr1:246981267-246981439	MCF-7	breast:	n/a	n/a
37	POLR2A	chr1:246981252-246981536	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:246981202-246981585	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:246981205-246981388	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:246981212-246981507	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:246981828-246982105	K562	blood:	n/a	n/a
42	POLR2A	chr1:246981966-246982065	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:246982021-246982067	ProgFib	skin:	n/a	n/a
44	POLR2A	chr1:246981889-246982232	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:246981907-246982244	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:246981779-246982438	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:246981336-246981514	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:246981269-246981424	MCF-7	breast:	n/a	n/a
49	POLR2A	chr1:246981226-246981483	Gliobla	brain:	n/a	n/a
50	POLR2A	chr1:246981819-246982314	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246980751..246981307-chr17:58678283..58679108,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235386	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554707158	chr1:246980674-246980675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182311845	chr1:246980700-246980701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534277017	chr1:246980715-246980716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150046946	chr1:246980716-246980717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114239888	chr1:246980726-246980727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577158747	chr1:246980730-246980731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201641927	chr1:246980770-246980771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186715743	chr1:246980775-246980776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556525230	chr1:246980781-246980782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74753158	chr1:246980782-246980783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576365046	chr1:246980795-246980796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145349445	chr1:246980797-246980798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536659680	chr1:246980803-246980804	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571432416	chr1:246980808-246980809	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561839168	chr1:246980814-246980815	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192185040	chr1:246980848-246980849	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149060077	chr1:246980873-246980874	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144637226	chr1:246980879-246980880	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532942112	chr1:246980888-246980889	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72764674	chr1:246980898-246980899	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576979890	chr1:246980904-246980905	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12747877	chr1:246980962-246980963	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531854349	chr1:246980964-246980965	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183905602	chr1:246980983-246980984	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112925351	chr1:246981000-246981001	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534167730	chr1:246981022-246981023	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140219155	chr1:246981027-246981028	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570810866	chr1:246981030-246981031	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539931819	chr1:246981033-246981034	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9426220	chr1:246981040-246981041	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34143312	chr1:246981044-246981045	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377751004	chr1:246981092-246981093	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs576528577	chr1:246981128-246981129	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535727202	chr1:246981141-246981142	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555736298	chr1:246981154-246981155	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371249926	chr1:246981156-246981157	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200160183	chr1:246981180-246981181	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572262400	chr1:246981202-246981203	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs188507697	chr1:246981204-246981205	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs564312191	chr1:246981216-246981217	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs117611691	chr1:246981220-246981221	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569055284	chr1:246981238-246981239	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs567590457	chr1:246981249-246981250	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs562921195	chr1:246981253-246981254	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528890044	chr1:246981258-246981259	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76186830	chr1:246981262-246981263	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112415313	chr1:246981263-246981264	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs79341542	chr1:246981266-246981267	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs75505053	chr1:246981283-246981284	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs398090055	chr1:246981289-246981290	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246976400-246981000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:246976400-246981000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:246976400-246981000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:246976400-246981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:246976600-246980800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:246977000-246981000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:246979800-246981000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:246980400-246980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:246980400-246981200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:246980800-246981400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr1:246980800-246981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:246981000-246981200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:246981000-246981200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:246981000-246981400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr1:246981000-246981400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr1:246981000-246981400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:246981000-246981400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:246981000-246981400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr1:246981000-246981400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr1:246981000-246981400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:246981000-246981400	ZNF genes & repeats	Stomach Mucosa	stomach
22	chr1:246981200-246981400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:246981200-246981400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:246981200-246981400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:246981200-246981400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr1:246981200-246981400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr1:246981200-246981400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:246981200-246981400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:246981200-246981400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:246981200-246981400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:246981200-246981400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:246981200-246981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:246981200-246981400	Flanking Bivalent TSS/Enh	Lung	lung
34	chr1:246981200-246981400	Enhancers	Right Atrium	heart
35	chr1:246981400-246981800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:246981400-246982800	Weak transcription	Right Atrium	heart
37	chr1:246981400-246983600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:246981400-246983800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:246981400-246984000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:246981400-246984000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:246981400-246984000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:246981400-246984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:246981400-246989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:246982800-246983200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:246983000-246986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:246983600-246985200	Enhancers	Primary T cells from cord blood	blood
47	chr1:246983600-246986000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:246983800-246984200	Bivalent Enhancer	Dnd41	blood
49	chr1:246983800-246985600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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