Variant report

Variant	nsv947189
Chromosome Location	chr1:84257762-84263159
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	BATF	chr1:84260072-84260370	GM12878	blood:	n/a	n/a
2	BATF	chr1:84260088-84260453	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:84262450-84262487	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr1:84257813-84257970	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:84257658-84258074	MCF10A-Er-Src	breast:	n/a	chr1:84257682-84257693
6	FOS	chr1:84257654-84258096	MCF10A-Er-Src	breast:	n/a	chr1:84257682-84257693
7	FOS	chr1:84257675-84258059	MCF10A-Er-Src	breast:	n/a	chr1:84257682-84257693
8	MYC	chr1:84257900-84257970	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:84260139-84260220	MCF10A-Er-Src	breast:	n/a	n/a
10	RUNX3	chr1:84260156-84260462	GM12878	blood:	n/a	n/a
11	RUNX3	chr1:84260084-84260457	GM12878	blood:	n/a	n/a
12	SPI1	chr1:84260027-84260270	GM12891	blood:	n/a	n/a
13	STAT3	chr1:84257711-84258082	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr1:84257657-84258097	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr1:84257672-84258086	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84262652..84264184-chr1:84271934..84274320,2	K562	blood:

Variant related genes	Relation type
ENSG00000223231	TF binding region

Extended variants
information (count: 188 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs370930379	chr1:84257791-84257792	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565611274	chr1:84257833-84257834	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189134315	chr1:84257933-84257934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10782820	chr1:84257951-84257952	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs375149166	chr1:84257960-84257961	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377539020	chr1:84258060-84258061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12070852	chr1:84258071-84258072	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35811426	chr1:84258091-84258092	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563690632	chr1:84258094-84258095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554536096	chr1:84258100-84258101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556576530	chr1:84258129-84258130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191955079	chr1:84258178-84258179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576472558	chr1:84258180-84258181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10159391	chr1:84258181-84258182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139553324	chr1:84258206-84258207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76386517	chr1:84258241-84258242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541786458	chr1:84258261-84258262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184562061	chr1:84258318-84258319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532892771	chr1:84258323-84258324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549520634	chr1:84258379-84258380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563361682	chr1:84258384-84258385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529001118	chr1:84258417-84258418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549139709	chr1:84258430-84258431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565574288	chr1:84258439-84258440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534597258	chr1:84258523-84258524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551311606	chr1:84258556-84258557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571214649	chr1:84258562-84258563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539783495	chr1:84258567-84258568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556303037	chr1:84258586-84258587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6699405	chr1:84258609-84258610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs187119431	chr1:84258618-84258619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555985961	chr1:84258624-84258625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191878742	chr1:84258653-84258654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541646717	chr1:84258661-84258662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560792463	chr1:84258664-84258665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538113997	chr1:84258684-84258685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564729840	chr1:84258693-84258694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578198921	chr1:84258697-84258698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543378139	chr1:84258736-84258737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563166007	chr1:84258739-84258740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184417247	chr1:84258741-84258742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548710426	chr1:84258746-84258747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189046718	chr1:84258782-84258783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180996860	chr1:84258809-84258810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551174102	chr1:84258816-84258817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549324370	chr1:84258853-84258854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557784321	chr1:84258870-84258871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569311828	chr1:84258878-84258879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61243881	chr1:84258881-84258882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145131958	chr1:84258967-84258968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84255400-84264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:84257000-84261600	Weak transcription	Primary T cells from cord blood	blood
3	chr1:84257200-84258200	Enhancers	NHDF-Ad	bronchial
4	chr1:84257200-84258400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:84257200-84258400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:84257400-84258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:84257400-84258400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:84258000-84265000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:84258200-84265200	Weak transcription	NHDF-Ad	bronchial
10	chr1:84261400-84264600	Weak transcription	Gastric	stomach
11	chr1:84262000-84262200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:84262000-84262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:84262000-84262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:84262200-84262400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:84262200-84262400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:84262200-84262800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:84262200-84265400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:84262400-84264600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:84262400-84265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:84262400-84265000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:84262600-84265600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:84262800-84268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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