Variant report

Variant	nsv999379
Chromosome Location	chr1:80810523-80843846
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	chr1:80840795-80841063	A549	lung:	n/a	chr1:80840946-80840957
2	CEBPB	chr1:80840786-80841111	HepG2	liver:	n/a	chr1:80840946-80840957
3	CEBPB	chr1:80818721-80819051	Hela-S3	cervix:	n/a	chr1:80818857-80818868
4	CEBPB	chr1:80840764-80841890	Hela-S3	cervix:	n/a	chr1:80840946-80840957
5	CEBPB	chr1:80818747-80819048	HepG2	liver:	n/a	chr1:80818857-80818868
6	CEBPB	chr1:80840772-80841661	IMR90	lung:	n/a	chr1:80840946-80840957
7	CTCF	chr1:80824068-80824115	GM13976	blood:	n/a	n/a
8	CTCF	chr1:80817964-80818025	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:80829610-80829697	GM10248	blood:	n/a	n/a
10	CUX1	chr1:80815734-80815743	GM12878	blood:	n/a	n/a
11	CUX1	chr1:80837707-80837714	GM12878	blood:	n/a	n/a
12	EP300	chr1:80840822-80841745	Hela-S3	cervix:	n/a	chr1:80840921-80840935 chr1:80840947-80840961
13	EP300	chr1:80835542-80835836	Hela-S3	cervix:	n/a	n/a
14	FOS	chr1:80829894-80830110	MCF10A-Er-Src	breast:	n/a	chr1:80829953-80829961
15	FOS	chr1:80841307-80841733	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:80824851-80825149	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:80841343-80841718	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:80829885-80830085	MCF10A-Er-Src	breast:	n/a	chr1:80829953-80829961
19	FOS	chr1:80823974-80824174	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:80824846-80825103	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:80841343-80841716	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:80824011-80824089	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:80829907-80830099	MCF10A-Er-Src	breast:	n/a	chr1:80829953-80829961
24	FOS	chr1:80841263-80841758	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr1:80841246-80841808	SK-N-SH	brain:	n/a	n/a
26	FOXA1	chr1:80824003-80824144	T-47D	breast:	n/a	n/a
27	FOXA1	chr1:80828763-80828982	T-47D	breast:	n/a	chr1:80828891-80828906
28	FOXA2	chr1:80813431-80813695	A549	lung:	n/a	n/a
29	GATA3	chr1:80819857-80819987	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr1:80841363-80841854	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr1:80827249-80827384	SH-SY5Y	brain:	n/a	n/a
32	JUN	chr1:80840854-80841003	HepG2	liver:	n/a	chr1:80840947-80840960
33	JUND	chr1:80840806-80841804	Hela-S3	cervix:	n/a	n/a
34	JUND	chr1:80841425-80841769	SK-N-SH	brain:	n/a	n/a
35	MAFF	chr1:80837041-80837175	K562	blood:	n/a	chr1:80837088-80837106 chr1:80837094-80837108
36	MAFF	chr1:80836988-80837188	HepG2	liver:	n/a	chr1:80837088-80837106 chr1:80837094-80837108
37	MAFK	chr1:80836959-80837263	HepG2	liver:	n/a	chr1:80837091-80837111 chr1:80837094-80837108
38	MAFK	chr1:80836983-80837162	IMR90	lung:	n/a	chr1:80837091-80837111 chr1:80837094-80837108
39	MYC	chr1:80841343-80841659	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:80831064-80831089	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:80830938-80831586	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr1:80830648-80830675	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:80828664-80828812	ProgFib	skin:	n/a	n/a
44	POLR2A	chr1:80834815-80835029	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr1:80841628-80841816	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:80838980-80839180	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr1:80834107-80834171	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:80831330-80831610	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr1:80841824-80841828	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:80818331-80818519	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-13	chr1:80822563-80822636	NONHSAT004108
2	lnc-ELTD1-7	chr1:80840122-80840306	XLOC_000882
3	lnc-ELTD1-7	chr1:80839049-80839443	XLOC_000882

Variant related genes	Relation type
ENSG00000225598	TF binding region

Extended variants
information (count: 604 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545227561	chr1:80822568-80822569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs369976282	chr1:80822597-80822598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs150903190	chr1:80825209-80825210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76820658	chr1:80825231-80825232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562571168	chr1:80825234-80825235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531534007	chr1:80825248-80825249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368449522	chr1:80825287-80825288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139273709	chr1:80825322-80825323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1781780	chr1:80825325-80825326	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs182706540	chr1:80825363-80825364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187028673	chr1:80825390-80825391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533372496	chr1:80825416-80825417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61772894	chr1:80825442-80825443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189952358	chr1:80825448-80825449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535638079	chr1:80825450-80825451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555567877	chr1:80825493-80825494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149979311	chr1:80825609-80825610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182499658	chr1:80825631-80825632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187536630	chr1:80825654-80825655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576714534	chr1:80825667-80825668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542144023	chr1:80825669-80825670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545858572	chr1:80825674-80825675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375982530	chr1:80825675-80825676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193069488	chr1:80825779-80825780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147700892	chr1:80825781-80825782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185699266	chr1:80825815-80825816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34682962	chr1:80825825-80825826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527497253	chr1:80825852-80825853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540929610	chr1:80825866-80825867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564410036	chr1:80825876-80825877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533153245	chr1:80825881-80825882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549796752	chr1:80825944-80825945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201328574	chr1:80825948-80825949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569793407	chr1:80825949-80825950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143795333	chr1:80825951-80825952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371633947	chr1:80825955-80825956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529317995	chr1:80825962-80825963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549079116	chr1:80825978-80825979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566098179	chr1:80825985-80825986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79549460	chr1:80825991-80825992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140785364	chr1:80826023-80826024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72933112	chr1:80826034-80826035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145250464	chr1:80826048-80826049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147604442	chr1:80826079-80826080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149112999	chr1:80826112-80826113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372361552	chr1:80826179-80826180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376299165	chr1:80826191-80826192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572099174	chr1:80826204-80826205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541267192	chr1:80826217-80826218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188929177	chr1:80826237-80826238	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80825200-80826800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:80825400-80825800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:80829600-80830000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:80829800-80830200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:80829800-80830200	Enhancers	HMEC	breast
6	chr1:80831200-80831800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:80831400-80832400	Enhancers	Fetal Lung	lung
8	chr1:80832200-80840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:80839000-80843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:80839200-80842000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:80839400-80840800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:80840000-80840800	Enhancers	HSMMtube	muscle
13	chr1:80840000-80841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:80840000-80842000	Enhancers	HMEC	breast
15	chr1:80840600-80841800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:80840600-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:80840600-80842400	Enhancers	Fetal Heart	heart
18	chr1:80840600-80842800	Enhancers	Hela-S3	cervix
19	chr1:80840800-80841400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:80840800-80841600	Weak transcription	HSMMtube	muscle
21	chr1:80840800-80842000	Enhancers	NHEK	skin
22	chr1:80841000-80841400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:80841400-80842000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:80841400-80842200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:80841600-80842000	Enhancers	HSMMtube	muscle
26	chr1:80842000-80846200	Weak transcription	HMEC	breast
27	chr1:80842200-80842600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:80842200-80843000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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