Variant report

Variant	esv2764198
Chromosome Location	chr1:184961804-184970511
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	chr1:184963464-184963813	K562	blood:	n/a	n/a
2	CBX3	chr1:184963290-184963819	K562	blood:	n/a	n/a
3	CEBPB	chr1:184970245-184970516	K562	blood:	n/a	chr1:184970383-184970394 chr1:184970384-184970393 chr1:184970382-184970393
4	CEBPB	chr1:184970232-184970858	Hela-S3	cervix:	n/a	chr1:184970383-184970394 chr1:184970384-184970393 chr1:184970382-184970393
5	CEBPB	chr1:184970322-184970522	HepG2	liver:	n/a	chr1:184970383-184970394 chr1:184970384-184970393 chr1:184970382-184970393
6	E2F4	chr1:184965280-184965286	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr1:184963255-184963443	HepG2	liver:	n/a	chr1:184963296-184963307
8	KAP1	chr1:184963280-184964045	K562	blood:	n/a	n/a
9	KAP1	chr1:184966359-184966843	K562	blood:	n/a	n/a
10	MAX	chr1:184967395-184967450	NB4	blood:	n/a	chr1:184967407-184967417
11	MYC	chr1:184963152-184963166	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:184964559-184964562	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:184964675-184965122	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr1:184964564-184964566	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:184965310-184965597	SK-N-MC	brain:	n/a	n/a
16	RAD21	chr1:184970497-184970577	Hela-S3	cervix:	n/a	n/a
17	SETDB1	chr1:184963318-184963871	U2OS	brain:	n/a	n/a
18	STAT3	chr1:184963417-184963425	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr1:184961668-184961865	MCF10A-Er-Src	breast:	n/a	chr1:184961710-184961722
20	ZNF143	chr1:184963509-184963771	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:184962088..184965076-chr1:184966830..184968567,2	K562	blood:
2	chr1:184957906..184960933-chr1:184961272..184965478,3	K562	blood:
3	chr1:184960231..184961946-chr1:184965528..184968520,2	K562	blood:
4	chr1:184962088..184965076-chr1:184966830..184968567,2	K562	blood:
5	chr1:184960231..184961946-chr1:184965528..184968520,2	K562	blood:
6	chr1:184962805..184965114-chr1:185013603..185016018,2	MCF-7	breast:
7	chr1:184953868..184955710-chr1:184959365..184963156,3	K562	blood:
8	chr1:184939333..184942142-chr1:184967073..184969585,2	K562	blood:

Variant related genes	Relation type
ENSG00000260976	TF binding region
ENSG00000121481	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12029679	chr1:184961804-184961805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529704297	chr1:184961811-184961812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567258135	chr1:184961854-184961855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528335968	chr1:184961855-184961856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546866818	chr1:184961860-184961861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571499456	chr1:184961922-184961923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78725922	chr1:184961976-184961977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572631031	chr1:184962011-184962012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563163959	chr1:184962050-184962051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530508623	chr1:184962098-184962099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113727354	chr1:184962116-184962117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78990203	chr1:184962122-184962123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555425453	chr1:184962138-184962139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148028495	chr1:184962177-184962178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577302159	chr1:184962861-184962862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79190637	chr1:184962896-184962897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76674681	chr1:184962912-184962913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12023631	chr1:184962926-184962927	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567699691	chr1:184962951-184962952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183512012	chr1:184963022-184963023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28559836	chr1:184963056-184963057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs117150863	chr1:184963057-184963058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569193251	chr1:184963104-184963105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527515297	chr1:184963143-184963144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188293279	chr1:184963154-184963155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532744926	chr1:184963156-184963157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539815024	chr1:184963165-184963166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140056093	chr1:184963174-184963175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557550379	chr1:184963191-184963192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575900978	chr1:184963200-184963201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542900344	chr1:184963227-184963228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143596560	chr1:184963288-184963289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528210636	chr1:184963311-184963312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35772178	chr1:184963312-184963313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373765213	chr1:184963453-184963454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112568764	chr1:184963482-184963483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192406225	chr1:184963486-184963487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12134511	chr1:184963521-184963522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550469077	chr1:184963524-184963525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185869555	chr1:184963587-184963588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189948484	chr1:184963612-184963613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548112340	chr1:184963619-184963620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181632114	chr1:184963651-184963652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534830189	chr1:184963671-184963672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546926478	chr1:184963729-184963730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558216361	chr1:184963739-184963740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573158041	chr1:184963742-184963743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571678335	chr1:184963752-184963753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376726503	chr1:184963786-184963787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186758942	chr1:184963832-184963833	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184961200-184962000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:184961200-184962000	Enhancers	NHEK	skin
3	chr1:184961200-184962200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:184961400-184962000	Enhancers	HMEC	breast
5	chr1:184961800-184962200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:184963800-184964600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:184963800-184964600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:184964000-184964400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:184964000-184964600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:184964200-184964600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:184964200-184964800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:184964400-184965000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184964600-184965200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:184965600-184966200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:184970400-184970600	Active TSS	K562	blood
16	chr1:184970400-184971000	Active TSS	Hela-S3	cervix

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