Variant report

Variant	nsv871588
Chromosome Location	chr1:79164901-79214489
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	chr1:79186923-79187193	GM12878	blood:	n/a	chr1:79187031-79187042
2	BATF	chr1:79186827-79187216	GM12878	blood:	n/a	chr1:79187031-79187042
3	CEBPB	chr1:79197368-79197731	A549	lung:	n/a	chr1:79197541-79197552
4	CEBPB	chr1:79197433-79197627	ECC-1	luminal epithelium:	n/a	chr1:79197541-79197552
5	CEBPB	chr1:79197433-79197699	ECC-1	luminal epithelium:	n/a	chr1:79197541-79197552
6	CEBPB	chr1:79181837-79182259	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:79197358-79197738	K562	blood:	n/a	chr1:79197541-79197552
8	CEBPB	chr1:79197403-79197622	A549	lung:	n/a	chr1:79197541-79197552
9	CEBPB	chr1:79197364-79197714	Hela-S3	cervix:	n/a	chr1:79197541-79197552
10	CEBPB	chr1:79198835-79199150	HepG2	liver:	n/a	chr1:79198994-79199003 chr1:79198994-79199003 chr1:79198994-79199003 chr1:79198992-79199003 chr1:79198992-79199005 chr1:79198993-79199004 chr1:79198994-79199003 chr1:79198992-79199005
11	CEBPB	chr1:79197358-79197736	IMR90	lung:	n/a	chr1:79197541-79197552
12	CEBPB	chr1:79180793-79181125	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:79197360-79197738	HepG2	liver:	n/a	chr1:79197541-79197552
14	CEBPB	chr1:79197356-79197735	MCF-7	breast:	n/a	chr1:79197541-79197552
15	CEBPB	chr1:79197399-79197716	H1-hESC	embryonic stem cell:	n/a	chr1:79197541-79197552
16	CEBPB	chr1:79180707-79181251	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:79197306-79197699	A549	lung:	n/a	chr1:79197541-79197552
18	CEBPB	chr1:79198927-79198988	K562	blood:	n/a	n/a
19	CHD2	chr1:79180841-79181073	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:79209480-79209630	RPTEC	kidney:	n/a	chr1:79209542-79209560
21	CTCF	chr1:79167260-79167410	GM12869	blood:	n/a	n/a
22	CTCF	chr1:79209480-79209630	HRE	kidney:	n/a	chr1:79209542-79209560
23	CTCF	chr1:79209440-79209590	AG09319	gingival:	n/a	chr1:79209542-79209560
24	CTCF	chr1:79181920-79182070	AG04449	skin:	n/a	n/a
25	CTCF	chr1:79209500-79209650	RPTEC	kidney:	n/a	chr1:79209542-79209560
26	CTCF	chr1:79209460-79209610	AG10803	skin:	n/a	chr1:79209542-79209560
27	CTCF	chr1:79209600-79209750	HFF	foreskin:	n/a	n/a
28	CTCF	chr1:79209740-79209890	SAEC	small airway:	n/a	n/a
29	CTCF	chr1:79209440-79209590	HA-sp	spinal cord:	n/a	chr1:79209542-79209560
30	CTCF	chr1:79209460-79209610	HBMEC	blood vessel:	n/a	chr1:79209542-79209560
31	CTCF	chr1:79209500-79209650	AoAF	blood vessel:	n/a	chr1:79209542-79209560
32	CTCF	chr1:79209500-79209650	HMEC	breast:	n/a	chr1:79209542-79209560
33	CTCF	chr1:79209440-79209590	BJ	skin:	n/a	chr1:79209542-79209560
34	CTCF	chr1:79209400-79209550	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr1:79209440-79209590	SK-N-SH_RA	brain:	n/a	chr1:79209542-79209560
36	CTCF	chr1:79209440-79209590	HCM	heart:	n/a	chr1:79209542-79209560
37	CTCF	chr1:79209440-79209590	AG10803	skin:	n/a	chr1:79209542-79209560
38	CTCF	chr1:79209460-79209610	BJ	skin:	n/a	chr1:79209542-79209560
39	CTCF	chr1:79209520-79209670	HPF	lung:	n/a	chr1:79209542-79209560
40	CTCF	chr1:79209460-79209610	AG09319	gingival:	n/a	chr1:79209542-79209560
41	CTCF	chr1:79181960-79182110	HMF	breast:	n/a	n/a
42	CTCF	chr1:79209500-79209650	HMF	breast:	n/a	chr1:79209542-79209560
43	CTCF	chr1:79209463-79209577	Gliobla	brain:	n/a	chr1:79209542-79209560
44	CTCF	chr1:79209480-79209630	HCFaa	heart:	n/a	chr1:79209542-79209560
45	CTCF	chr1:79209420-79209570	AG04450	lung:	n/a	chr1:79209542-79209560
46	CTCF	chr1:79209620-79209770	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr1:79209480-79209630	HCT-116	colon:	n/a	chr1:79209542-79209560
48	CTCF	chr1:79209420-79209570	HPF	lung:	n/a	chr1:79209542-79209560
49	CTCF	chr1:79209460-79209610	AG04449	skin:	n/a	chr1:79209542-79209560
50	CTCF	chr1:79209400-79209550	NHLF	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000235400	TF binding region

Extended variants
information (count: 1367 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1367 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11162536	chr1:79164901-79164902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557482626	chr1:79164941-79164942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555913434	chr1:79164952-79164953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574181337	chr1:79164970-79164971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186086191	chr1:79165011-79165012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145350416	chr1:79165020-79165021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545425073	chr1:79165059-79165060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7533325	chr1:79165068-79165069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs190799727	chr1:79165080-79165081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542779769	chr1:79165087-79165088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561131447	chr1:79165092-79165093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181879881	chr1:79165128-79165129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528307984	chr1:79165148-79165149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546449335	chr1:79165219-79165220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533846446	chr1:79165258-79165259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531952869	chr1:79165261-79165262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187331149	chr1:79165263-79165264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568796067	chr1:79165305-79165306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536324607	chr1:79165325-79165326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549687670	chr1:79165344-79165345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146594738	chr1:79165349-79165350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567849956	chr1:79165374-79165375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192399085	chr1:79165375-79165376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182440145	chr1:79165519-79165520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571994058	chr1:79165525-79165526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76061326	chr1:79165573-79165574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554005522	chr1:79165617-79165618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1926900	chr1:79165630-79165631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187910537	chr1:79165661-79165662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543940121	chr1:79165670-79165671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557301007	chr1:79165679-79165680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115292393	chr1:79165685-79165686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543095874	chr1:79165723-79165724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141051656	chr1:79165748-79165749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573922060	chr1:79165780-79165781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572654727	chr1:79165842-79165843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540059481	chr1:79165869-79165870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564802479	chr1:79165875-79165876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113585716	chr1:79165887-79165888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189915833	chr1:79165943-79165944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371183592	chr1:79165950-79165951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150263434	chr1:79165991-79165992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7536481	chr1:79166012-79166013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12409167	chr1:79166022-79166023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs7539336	chr1:79166061-79166062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138931817	chr1:79166088-79166089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576476320	chr1:79166135-79166136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566577042	chr1:79166151-79166152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182693994	chr1:79166164-79166165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547232530	chr1:79166169-79166170	Weak transcription	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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79158200-79167200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:79160600-79168200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:79168200-79168600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:79169400-79170000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:79169400-79170200	Enhancers	Osteobl	bone
6	chr1:79169800-79170200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:79170800-79171600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:79171600-79176000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:79176000-79176800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:79176800-79179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:79178400-79179200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:79178400-79180600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:79178400-79184800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:79178400-79185000	Enhancers	Osteobl	bone
15	chr1:79178600-79180000	Enhancers	Brain Germinal Matrix	brain
16	chr1:79179200-79180600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:79179800-79183400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:79180000-79180200	Enhancers	HSMMtube	muscle
19	chr1:79180000-79180600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:79180000-79184600	Enhancers	NHDF-Ad	bronchial
21	chr1:79180200-79180800	Weak transcription	HSMMtube	muscle
22	chr1:79180200-79182400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:79180400-79181400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:79180400-79182000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:79180600-79180800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:79180600-79180800	Enhancers	Brain Germinal Matrix	brain
27	chr1:79180600-79181800	Enhancers	NHLF	lung
28	chr1:79180600-79182000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:79180600-79184800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:79180800-79181200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:79180800-79181800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:79180800-79181800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:79180800-79182800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:79180800-79182800	Enhancers	HSMMtube	muscle
35	chr1:79181000-79181400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:79181000-79181400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:79181000-79181400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:79181000-79181400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:79181000-79181400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:79181000-79181400	Enhancers	Aorta	Aorta
41	chr1:79181000-79181600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:79181000-79181800	Enhancers	HSMM	muscle
43	chr1:79181000-79182000	Enhancers	NH-A	brain
44	chr1:79181200-79181400	Enhancers	HUVEC	blood vessel
45	chr1:79181200-79181600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:79181400-79182000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:79181400-79182400	Weak transcription	HUVEC	blood vessel
48	chr1:79181400-79182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:79181400-79183600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:79181400-79184200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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