Variant report

Variant	nsv1332
Chromosome Location	chr1:69894355-69905218
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	chr1:69898839-69899159	IMR90	lung:	n/a	chr1:69899008-69899017 chr1:69899006-69899017
2	CEBPB	chr1:69896937-69896996	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:69898171-69898387	K562	blood:	n/a	chr1:69898277-69898288 chr1:69898275-69898288 chr1:69898275-69898288
4	CTCF	chr1:69905092-69905244	K562	blood:	n/a	n/a
5	FOS	chr1:69898779-69899117	MCF10A-Er-Src	breast:	n/a	chr1:69898915-69898925
6	FOS	chr1:69898785-69899196	MCF10A-Er-Src	breast:	n/a	chr1:69898915-69898925
7	FOS	chr1:69898888-69899100	MCF10A-Er-Src	breast:	n/a	chr1:69898915-69898925
8	GATA1	chr1:69901229-69901984	PBDE	blood:	n/a	chr1:69901577-69901586 chr1:69901579-69901586 chr1:69901579-69901586 chr1:69901579-69901586
9	GATA2	chr1:69904406-69904670	K562	blood:	n/a	n/a
10	GATA2	chr1:69901427-69901726	K562	blood:	n/a	chr1:69901577-69901586 chr1:69901579-69901586 chr1:69901579-69901586 chr1:69901579-69901586
11	JUND	chr1:69895371-69895580	HepG2	liver:	n/a	n/a
12	KAP1	chr1:69895541-69895846	K562	blood:	n/a	n/a
13	MAFF	chr1:69900685-69900844	HepG2	liver:	n/a	n/a
14	MAFK	chr1:69900599-69900927	HepG2	liver:	n/a	n/a
15	MAFK	chr1:69900621-69900953	HepG2	liver:	n/a	n/a
16	MYC	chr1:69898857-69899117	MCF10A-Er-Src	breast:	n/a	n/a
17	NFYB	chr1:69899375-69899529	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:69898428-69898628	MCF10A-Er-Src	breast:	n/a	n/a
19	TAL1	chr1:69904346-69904699	K562	blood:	n/a	n/a
20	TAL1	chr1:69901370-69901819	K562	blood:	n/a	n/a
21	TEAD4	chr1:69901411-69901777	K562	blood:	n/a	n/a
22	TEAD4	chr1:69904326-69904689	K562	blood:	n/a	n/a
23	USF1	chr1:69896317-69896535	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC7-3	chr1:69900686-69901092	XLOC_000243
2	lnc-LRRC7-3	chr1:69898938-69898988	XLOC_000243
3	lnc-LRRC7-3	chr1:69898834-69898988	NONHSAT003835
4	lnc-LRRC7-3	chr1:69900685-69901092	NONHSAT003835

Variant related genes	Relation type
ENSG00000229639	TF binding region

Extended variants
information (count: 341 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371183095	chr1:69895454-69895455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535314342	chr1:69895462-69895463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs193163082	chr1:69895483-69895484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542943653	chr1:69895520-69895521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562728531	chr1:69895527-69895528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531622620	chr1:69895548-69895549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556727063	chr1:69895553-69895554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199769370	chr1:69895577-69895578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200693768	chr1:69895578-69895579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs397715630	chr1:69895580-69895581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113855707	chr1:69895581-69895582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368213832	chr1:69895582-69895583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184981113	chr1:69895597-69895598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571397164	chr1:69895648-69895649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527428459	chr1:69895667-69895668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs190220555	chr1:69895670-69895671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs140380057	chr1:69895701-69895702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369346077	chr1:69895794-69895795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535799383	chr1:69895800-69895801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs550236734	chr1:69896318-69896319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs398074030	chr1:69896329-69896330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs397715287	chr1:69896330-69896331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117981508	chr1:69896351-69896352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs186607797	chr1:69896383-69896384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549413975	chr1:69896388-69896389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189391933	chr1:69896406-69896407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539000264	chr1:69896458-69896459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs552804148	chr1:69896496-69896497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566167844	chr1:69896524-69896525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115024163	chr1:69896943-69896944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs74086378	chr1:69896968-69896969	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183386307	chr1:69896969-69896970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529769257	chr1:69897004-69897005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549450900	chr1:69897006-69897007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76657735	chr1:69897012-69897013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186148518	chr1:69897024-69897025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373978226	chr1:69897058-69897059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189771765	chr1:69897089-69897090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34853469	chr1:69897102-69897103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542477130	chr1:69897127-69897128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535329775	chr1:69897147-69897148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148175581	chr1:69897155-69897156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182071451	chr1:69897209-69897210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576029784	chr1:69897230-69897231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188270321	chr1:69897237-69897238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192795560	chr1:69897260-69897261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141979683	chr1:69897333-69897334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539779500	chr1:69897366-69897367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561268003	chr1:69897617-69897618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554378452	chr1:69897619-69897620	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69897000-69897400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:69897600-69898000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:69898200-69899400	Enhancers	NHEK	skin
4	chr1:69898600-69899400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:69899000-69899400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:69899000-69899400	Enhancers	HMEC	breast
7	chr1:69899400-69906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:69901200-69901400	Enhancers	K562	blood
9	chr1:69901400-69901800	Flanking Active TSS	K562	blood
10	chr1:69901800-69902400	Enhancers	K562	blood
11	chr1:69904000-69904400	Enhancers	Fetal Kidney	kidney

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