Variant report

Variant	nsv830270
Chromosome Location	chr1:76002220-76033156
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	BACH1	chr1:76003667-76003673	K562	blood:	n/a	n/a
2	BHLHE40	chr1:76007429-76007491	K562	blood:	n/a	n/a
3	CEBPB	chr1:76010250-76010450	IMR90	lung:	n/a	n/a
4	CEBPB	chr1:76018442-76018543	K562	blood:	n/a	n/a
5	CEBPB	chr1:76010207-76010468	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:76026127-76026342	K562	blood:	n/a	chr1:76026199-76026210
7	CEBPB	chr1:76026122-76026301	HepG2	liver:	n/a	chr1:76026199-76026210
8	CEBPB	chr1:76010190-76010521	K562	blood:	n/a	n/a
9	CTCF	chr1:76014860-76015010	HAc	cerebellar:	n/a	n/a
10	CTCF	chr1:76013131-76013191	GM20000	blood:	n/a	n/a
11	CTCF	chr1:76005410-76005421	GM13976	blood:	n/a	n/a
12	CUX1	chr1:76021956-76021965	GM12878	blood:	n/a	n/a
13	EP300	chr1:76014326-76014768	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr1:76009381-76009651	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr1:76005395-76005524	GM12878	blood:	n/a	n/a
16	EP300	chr1:76007440-76007631	K562	blood:	n/a	n/a
17	EP300	chr1:76005148-76005528	SK-N-SH_RA	brain:	n/a	chr1:76005277-76005291
18	EP300	chr1:76025403-76025913	SK-N-SH	brain:	n/a	n/a
19	EP300	chr1:76005078-76005740	SK-N-SH	brain:	n/a	chr1:76005136-76005150 chr1:76005277-76005291
20	EP300	chr1:76005140-76005560	SK-N-SH_RA	brain:	n/a	chr1:76005277-76005291
21	EP300	chr1:76014267-76014955	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr1:76005295-76005575	GM12878	blood:	n/a	n/a
23	EP300	chr1:76009404-76009785	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr1:76009394-76009739	SK-N-SH	brain:	n/a	n/a
25	EP300	chr1:76030042-76030075	K562	blood:	n/a	n/a
26	FOS	chr1:76009456-76009734	MCF10A-Er-Src	breast:	n/a	chr1:76009599-76009607
27	FOS	chr1:76009439-76009786	MCF10A-Er-Src	breast:	n/a	chr1:76009599-76009607
28	FOS	chr1:76025687-76025759	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:76005193-76005544	MCF10A-Er-Src	breast:	n/a	chr1:76005365-76005373 chr1:76005363-76005374
30	FOS	chr1:76005193-76005555	MCF10A-Er-Src	breast:	n/a	chr1:76005365-76005373 chr1:76005363-76005374
31	FOS	chr1:76009439-76009708	MCF10A-Er-Src	breast:	n/a	chr1:76009599-76009607
32	FOS	chr1:76005197-76005544	MCF10A-Er-Src	breast:	n/a	chr1:76005365-76005373 chr1:76005363-76005374
33	FOS	chr1:76005201-76005574	HUVEC	blood vessel:	n/a	chr1:76005365-76005373 chr1:76005363-76005374
34	FOS	chr1:76005197-76005525	MCF10A-Er-Src	breast:	n/a	chr1:76005365-76005373 chr1:76005363-76005374
35	FOS	chr1:76016175-76016917	HUVEC	blood vessel:	n/a	n/a
36	FOSL2	chr1:76005069-76005687	SK-N-SH	brain:	n/a	chr1:76005365-76005373
37	FOSL2	chr1:76005274-76005631	SK-N-SH	brain:	n/a	chr1:76005365-76005373
38	FOXA1	chr1:76024845-76025185	HepG2	liver:	n/a	n/a
39	GATA2	chr1:76008537-76008998	HUVEC	blood vessel:	n/a	n/a
40	GATA2	chr1:76009404-76009931	HUVEC	blood vessel:	n/a	chr1:76009597-76009606 chr1:76009610-76009624
41	GATA3	chr1:76026468-76027541	SK-N-SH	brain:	n/a	chr1:76026598-76026614 chr1:76027378-76027391 chr1:76027380-76027388 chr1:76026803-76026814
42	GATA3	chr1:76009392-76009952	SK-N-SH	brain:	n/a	chr1:76009597-76009606
43	GATA3	chr1:76005918-76005950	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr1:76005039-76005797	SK-N-SH	brain:	n/a	chr1:76005100-76005113
45	GATA3	chr1:76008332-76009026	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr1:76025264-76026029	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr1:76025475-76025562	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr1:76025275-76026023	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr1:76012767-76012915	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr1:76014287-76015259	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:76026343..76028341-chr1:76031572..76034136,2	K562	blood:
2	chr1:76031520..76033878-chr1:76036430..76038361,2	K562	blood:
3	chr1:76032378..76034524-chr1:76036114..76037930,2	K562	blood:
4	chr1:75887927..75890320-chr1:76006872..76008474,2	K562	blood:
5	chr1:76020704..76023494-chr1:76034910..76036939,2	K562	blood:
6	chr1:76027597..76030890-chr1:76036483..76038711,3	K562	blood:
7	chr1:76026343..76028341-chr1:76031572..76034136,2	K562	blood:
8	chr1:76032274..76034095-chr1:76189128..76191576,2	K562	blood:

Variant related genes	Relation type
RNU6-503P	TF binding region
ENSG00000117054	chromatin interactions
ENSG00000178193	chromatin interactions

Extended variants
information (count: 749 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192799117	chr1:76002242-76002243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71656836	chr1:76002281-76002282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12072580	chr1:76002283-76002284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61201933	chr1:76002299-76002300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12074533	chr1:76002303-76002304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200382801	chr1:76002307-76002308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58064515	chr1:76002310-76002311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57059941	chr1:76002312-76002313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199586321	chr1:76002315-76002316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200448991	chr1:76002316-76002317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59475826	chr1:76002322-76002323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149727917	chr1:76002371-76002372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71656837	chr1:76002407-76002408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184144152	chr1:76002420-76002421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190658639	chr1:76002430-76002431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536412988	chr1:76002463-76002464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57968487	chr1:76002507-76002508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71656838	chr1:76002523-76002524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554590312	chr1:76002553-76002554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573046795	chr1:76002647-76002648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539858986	chr1:76002685-76002686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61386385	chr1:76002686-76002687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12072747	chr1:76002688-76002689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4035321	chr1:76002709-76002710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202062411	chr1:76002714-76002715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201517349	chr1:76002716-76002717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568318690	chr1:76002718-76002719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373892528	chr1:76002719-76002720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376331092	chr1:76002720-76002721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370246811	chr1:76002722-76002723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61399659	chr1:76002726-76002727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200535155	chr1:76002727-76002728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558173018	chr1:76002749-76002750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576430718	chr1:76002753-76002754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138695032	chr1:76002754-76002755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181992298	chr1:76002775-76002776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530244367	chr1:76002848-76002849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535643701	chr1:76002945-76002946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184400280	chr1:76002972-76002973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555708410	chr1:76003008-76003009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189083257	chr1:76003013-76003014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181540784	chr1:76003024-76003025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142693357	chr1:76003028-76003029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185621286	chr1:76003039-76003040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35592604	chr1:76003053-76003054	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs531715543	chr1:76003054-76003055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546421211	chr1:76003191-76003192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60035103	chr1:76003207-76003208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12125566	chr1:76003234-76003235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376441113	chr1:76003248-76003249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Melanoma	17363583	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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 cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76000000-76008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76000400-76005000	Weak transcription	HUVEC	blood vessel
3	chr1:76004400-76007600	Enhancers	Fetal Intestine Small	intestine
4	chr1:76004600-76005200	Enhancers	Fetal Intestine Large	intestine
5	chr1:76004800-76005600	Enhancers	NH-A	brain
6	chr1:76005000-76006200	Enhancers	HUVEC	blood vessel
7	chr1:76006200-76007800	Weak transcription	HUVEC	blood vessel
8	chr1:76006800-76007000	Enhancers	Fetal Intestine Large	intestine
9	chr1:76007200-76008800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:76007600-76008600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:76007800-76010000	Enhancers	HUVEC	blood vessel
12	chr1:76008200-76009200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:76008400-76008800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:76008400-76009000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:76008600-76009200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:76008800-76009000	Enhancers	Fetal Intestine Small	intestine
17	chr1:76008800-76009200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:76008800-76009200	Enhancers	Fetal Kidney	kidney
19	chr1:76010000-76014200	Weak transcription	HUVEC	blood vessel
20	chr1:76014200-76017200	Enhancers	HUVEC	blood vessel
21	chr1:76024000-76024200	Enhancers	Fetal Kidney	kidney
22	chr1:76024000-76024800	Enhancers	HUVEC	blood vessel
23	chr1:76024200-76024800	Weak transcription	Fetal Kidney	kidney
24	chr1:76024800-76025200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:76024800-76025800	Enhancers	Fetal Kidney	kidney
26	chr1:76025000-76025400	Enhancers	Liver	Liver
27	chr1:76025000-76025800	Enhancers	Gastric	stomach
28	chr1:76025200-76026800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:76026800-76027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:76026800-76027600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr1:76027600-76028400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:76032000-76032400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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