Variant report

Variant	nsv947072
Chromosome Location	chr1:227709512-227712483
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	CTCF	chr1:227709572-227709620	Fibrobl	skin:	n/a	n/a
2	CTCF	chr1:227710101-227710223	GM13976	blood:	n/a	n/a
3	EP300	chr1:227711426-227711443	K562	blood:	n/a	n/a
4	MYC	chr1:227709938-227709987	GM12878	blood:	n/a	n/a
5	MYC	chr1:227710049-227710123	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:227711275-227711645	K562	blood:	n/a	n/a
7	POLR2A	chr1:227710048-227710869	K562	blood:	n/a	n/a
8	RCOR1	chr1:227711309-227711428	K562	blood:	n/a	n/a
9	SRF	chr1:227710076-227710201	GM12878	blood:	n/a	n/a
10	STAT3	chr1:227711466-227711655	MCF10A-Er-Src	breast:	n/a	n/a
11	WRNIP1	chr1:227709990-227710158	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:

Variant related genes	Relation type
ENSG00000227711	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572830150	chr1:227709534-227709535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12132444	chr1:227709546-227709547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150728153	chr1:227709587-227709588	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575256376	chr1:227709619-227709620	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2492633	chr1:227709624-227709625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369019958	chr1:227709628-227709629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557566428	chr1:227709650-227709651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78570793	chr1:227709675-227709676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575762120	chr1:227709688-227709689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546248648	chr1:227709709-227709710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564242014	chr1:227709731-227709732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565241401	chr1:227709738-227709739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182922458	chr1:227709811-227709812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540280014	chr1:227709867-227709868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561629709	chr1:227709868-227709869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114877241	chr1:227709881-227709882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139070981	chr1:227709902-227709903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111733060	chr1:227709961-227709962	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538403505	chr1:227709992-227709993	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs1080061	chr1:227709997-227709998	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs532985390	chr1:227710065-227710066	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551455548	chr1:227710090-227710091	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566613126	chr1:227710094-227710095	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78573600	chr1:227710105-227710106	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs76732374	chr1:227710106-227710107	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575270698	chr1:227710117-227710118	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs72748030	chr1:227710126-227710127	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs72472991	chr1:227710137-227710138	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs79311941	chr1:227710156-227710157	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs77608259	chr1:227710170-227710171	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs78215460	chr1:227710176-227710177	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533765990	chr1:227710195-227710196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs79109717	chr1:227710208-227710209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs34878145	chr1:227710218-227710219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs74994958	chr1:227710223-227710224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2256599	chr1:227710227-227710228	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs73090923	chr1:227710238-227710239	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187220571	chr1:227710254-227710255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs139072933	chr1:227710262-227710263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78155254	chr1:227710263-227710264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs76416714	chr1:227710270-227710271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557388563	chr1:227710311-227710312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575744192	chr1:227710359-227710360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs199643578	chr1:227710360-227710361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148553515	chr1:227710374-227710375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2453682	chr1:227710381-227710382	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs557818894	chr1:227710382-227710383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370406387	chr1:227710419-227710420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199724642	chr1:227710461-227710462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192902238	chr1:227710465-227710466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227709200-227710200	Enhancers	HSMMtube	muscle
2	chr1:227709600-227710200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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