Variant report

Variant	nsv945299
Chromosome Location	chr1:220487822-220491617
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	chr1:220490593-220490793	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:220491114-220491314	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:220491119-220491179	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:220489400-220489550	GM12878	blood:	n/a	n/a
5	E2F4	chr1:220488199-220488393	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:220488480-220488727	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:220488408-220488941	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:220489284-220489579	MCF10A-Er-Src	breast:	n/a	chr1:220489337-220489348 chr1:220489334-220489345 chr1:220489462-220489471 chr1:220489336-220489344
9	FOS	chr1:220489326-220489459	MCF10A-Er-Src	breast:	n/a	chr1:220489337-220489348 chr1:220489334-220489345 chr1:220489336-220489344
10	FOS	chr1:220488505-220488735	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr1:220489314-220489524	MCF10A-Er-Src	breast:	n/a	chr1:220489337-220489348 chr1:220489334-220489345 chr1:220489462-220489471 chr1:220489336-220489344
12	FOS	chr1:220488442-220488795	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA3	chr1:220489171-220489669	SK-N-SH	brain:	n/a	chr1:220489496-220489503 chr1:220489478-220489487 chr1:220489496-220489503 chr1:220489496-220489503
14	HEY1	chr1:220490239-220490518	K562	blood:	n/a	n/a
15	JUN	chr1:220490949-220491068	HepG2	liver:	n/a	chr1:220490984-220490993 chr1:220490980-220490993
16	JUND	chr1:220490878-220491123	HepG2	liver:	n/a	chr1:220490984-220490993
17	MYC	chr1:220488400-220488729	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr1:220488432-220488721	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:220490170-220490340	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:220490049-220490502	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:220490060-220490617	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:220490305-220490320	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:220490115-220490494	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:220490665-220490688	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:220488201-220488287	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:220489165-220489239	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr1:220488474-220488766	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr1:220488501-220488674	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr1:220488426-220488758	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220485586..220488205-chr1:220491001..220493113,2	MCF-7	breast:
2	chr1:220485586..220488205-chr1:220491001..220493113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232883	TF binding region
XRCC6P3	TF binding region

Extended variants
information (count: 191 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs142025466	chr1:220487832-220487833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550251003	chr1:220487852-220487853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570160021	chr1:220487888-220487889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80190668	chr1:220487891-220487892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150716161	chr1:220487913-220487914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190560045	chr1:220487923-220487924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566094820	chr1:220487930-220487931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534586430	chr1:220487968-220487969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139503147	chr1:220487976-220487977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577725025	chr1:220488038-220488039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536854321	chr1:220488058-220488059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370947355	chr1:220488062-220488063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556786750	chr1:220488113-220488114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573382562	chr1:220488134-220488135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542338772	chr1:220488167-220488168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192711707	chr1:220488184-220488185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6702901	chr1:220488188-220488189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541321495	chr1:220488196-220488197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375669015	chr1:220488216-220488217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564804053	chr1:220488238-220488239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533501360	chr1:220488240-220488241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550387535	chr1:220488281-220488282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563906892	chr1:220488318-220488319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573105378	chr1:220488330-220488331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529385223	chr1:220488338-220488339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6694670	chr1:220488354-220488355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111916427	chr1:220488446-220488447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535028842	chr1:220488462-220488463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147155632	chr1:220488523-220488524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571518966	chr1:220488564-220488565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184370206	chr1:220488566-220488567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140424698	chr1:220488571-220488572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573520610	chr1:220488593-220488594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535907752	chr1:220488621-220488622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553040819	chr1:220488634-220488635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572701682	chr1:220488642-220488643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544985557	chr1:220488690-220488691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564768408	chr1:220488707-220488708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35412340	chr1:220488715-220488716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561645358	chr1:220488726-220488727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149713578	chr1:220488734-220488735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544155835	chr1:220488735-220488736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530665837	chr1:220488736-220488737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189692824	chr1:220488752-220488753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529529143	chr1:220488796-220488797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145583683	chr1:220488813-220488814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148479619	chr1:220488904-220488905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550285808	chr1:220488912-220488913	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs528627355	chr1:220488954-220488955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551746087	chr1:220488970-220488971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220486200-220488600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:220487000-220488400	Enhancers	Right Ventricle	heart
3	chr1:220487400-220495400	Weak transcription	Right Atrium	heart
4	chr1:220487800-220489600	Enhancers	Fetal Heart	heart
5	chr1:220488200-220488800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:220488200-220490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:220488400-220488800	Enhancers	Left Ventricle	heart
8	chr1:220488400-220490200	Enhancers	Adipose Nuclei	Adipose
9	chr1:220488400-220490200	Weak transcription	Right Ventricle	heart
10	chr1:220488600-220489400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:220488800-220489600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:220488800-220491800	Weak transcription	Left Ventricle	heart
13	chr1:220489000-220489600	Enhancers	NHDF-Ad	bronchial
14	chr1:220489600-220491200	Weak transcription	Fetal Heart	heart
15	chr1:220490200-220490600	Enhancers	Right Ventricle	heart
16	chr1:220490200-220492400	Weak transcription	Adipose Nuclei	Adipose
17	chr1:220490600-220491600	Weak transcription	Right Ventricle	heart
18	chr1:220490800-220491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:220491200-220491400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:220491200-220493000	Enhancers	Fetal Heart	heart
21	chr1:220491400-220492400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:220491600-220492000	Enhancers	HSMMtube	muscle

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