Variant report

Variant	nsv462261
Chromosome Location	chr1:80538189-80588666
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	ATF1	chr1:80579439-80579499	K562	blood:	n/a	n/a
2	BACH1	chr1:80549615-80549808	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:80548886-80548916	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr1:80576699-80576922	K562	blood:	n/a	n/a
5	CBX3	chr1:80576645-80576941	K562	blood:	n/a	n/a
6	CEBPB	chr1:80578699-80578996	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:80548985-80549185	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:80555874-80556156	IMR90	lung:	n/a	chr1:80555985-80555998 chr1:80555986-80555997
9	CEBPB	chr1:80572688-80572902	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:80555874-80556123	HepG2	liver:	n/a	chr1:80555985-80555998 chr1:80555986-80555997
11	CEBPB	chr1:80578708-80578995	A549	lung:	n/a	n/a
12	CEBPB	chr1:80578715-80578978	K562	blood:	n/a	n/a
13	CEBPB	chr1:80578688-80579006	HepG2	liver:	n/a	n/a
14	CTCF	chr1:80580987-80581042	LNCaP	prostate:	n/a	n/a
15	CTCF	chr1:80581508-80581584	Fibrobl	skin:	n/a	n/a
16	CTCF	chr1:80548678-80548691	GM20000	blood:	n/a	n/a
17	CTCF	chr1:80583020-80583033	LNCaP	prostate:	n/a	n/a
18	CTCF	chr1:80548693-80548790	GM20000	blood:	n/a	n/a
19	CTCF	chr1:80570240-80570390	GM12869	blood:	n/a	n/a
20	CTCF	chr1:80549600-80549750	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:80539526-80539570	GM20000	blood:	n/a	n/a
22	CUX1	chr1:80560706-80560736	GM12878	blood:	n/a	n/a
23	FOS	chr1:80586769-80587018	HUVEC	blood vessel:	n/a	chr1:80586881-80586892 chr1:80586883-80586890 chr1:80586882-80586891 chr1:80586883-80586891
24	FOXA1	chr1:80549610-80549839	HepG2	liver:	n/a	n/a
25	FOXA1	chr1:80549567-80549835	HepG2	liver:	n/a	n/a
26	FOXA1	chr1:80549609-80549832	HepG2	liver:	n/a	n/a
27	FOXA1	chr1:80549477-80549916	T-47D	breast:	n/a	n/a
28	FOXA1	chr1:80549561-80549820	T-47D	breast:	n/a	n/a
29	FOXA2	chr1:80549610-80549881	A549	lung:	n/a	n/a
30	FOXA2	chr1:80549639-80549810	HepG2	liver:	n/a	n/a
31	GATA3	chr1:80549558-80550175	MCF-7	breast:	n/a	n/a
32	GATA3	chr1:80579624-80579765	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr1:80549558-80549920	MCF-7	breast:	n/a	n/a
34	GATA3	chr1:80565889-80565993	SH-SY5Y	brain:	n/a	n/a
35	JUN	chr1:80561090-80561169	K562	blood:	n/a	n/a
36	JUND	chr1:80578797-80578999	HepG2	liver:	n/a	n/a
37	JUND	chr1:80568437-80568702	HepG2	liver:	n/a	chr1:80568546-80568557
38	JUND	chr1:80546097-80546368	HepG2	liver:	n/a	chr1:80546262-80546271
39	KAP1	chr1:80576468-80576886	K562	blood:	n/a	n/a
40	KAP1	chr1:80566842-80567288	U2OS	brain:	n/a	n/a
41	KAP1	chr1:80566861-80567327	HEK293	kidney:	n/a	n/a
42	KAP1	chr1:80576498-80577031	HEK293	kidney:	n/a	n/a
43	KAP1	chr1:80547980-80548360	K562	blood:	n/a	n/a
44	MAFF	chr1:80549654-80549842	HepG2	liver:	n/a	chr1:80549754-80549772
45	MAFF	chr1:80546419-80546597	HepG2	liver:	n/a	n/a
46	MAFK	chr1:80546460-80546646	HepG2	liver:	n/a	chr1:80546547-80546562
47	MAFK	chr1:80549631-80549777	HepG2	liver:	n/a	chr1:80549756-80549767 chr1:80549756-80549771 chr1:80549756-80549767
48	MAFK	chr1:80571652-80571926	HepG2	liver:	n/a	chr1:80571780-80571800 chr1:80571789-80571800 chr1:80571782-80571798
49	MAFK	chr1:80546467-80546664	IMR90	lung:	n/a	chr1:80546547-80546562
50	MAFK	chr1:80571747-80571928	HepG2	liver:	n/a	chr1:80571780-80571800 chr1:80571789-80571800 chr1:80571782-80571798

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:80568623..80571326-chr1:80577304..80579523,2	K562	blood:
2	chr1:80568623..80571326-chr1:80577304..80579523,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-11	chr1:80557788-80558922	NONHSAT004104
2	lnc-LPHN2-3	chr1:80580628-80582603	ENSG00000260322.1

Variant related genes	Relation type
ENSG00000235756	TF binding region
ENSG00000260322	TF binding region

Extended variants
information (count: 962 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1414411	chr1:80538189-80538190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533732092	chr1:80538255-80538256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367830158	chr1:80538260-80538261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574057210	chr1:80538277-80538278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540055331	chr1:80538320-80538321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116802728	chr1:80538331-80538332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578243025	chr1:80538334-80538335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545288603	chr1:80538339-80538340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557515908	chr1:80538369-80538370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575678318	chr1:80538400-80538401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543097666	chr1:80538470-80538471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370202807	chr1:80538515-80538516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375606601	chr1:80538527-80538528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185924734	chr1:80538528-80538529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540205737	chr1:80538539-80538540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74097162	chr1:80538553-80538554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543019696	chr1:80538559-80538560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532418958	chr1:80538610-80538611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573799873	chr1:80538611-80538612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550528813	chr1:80538667-80538668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114899210	chr1:80538782-80538783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112683663	chr1:80538798-80538799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529793638	chr1:80538852-80538853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74097164	chr1:80538874-80538875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566528501	chr1:80538877-80538878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533792522	chr1:80538920-80538921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558554188	chr1:80538936-80538937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191567070	chr1:80538954-80538955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539299904	chr1:80538968-80538969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557311381	chr1:80538977-80538978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575804251	chr1:80538979-80538980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542806213	chr1:80539017-80539018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368029094	chr1:80539031-80539032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182461608	chr1:80539038-80539039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572965105	chr1:80539045-80539046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147499812	chr1:80539096-80539097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187461748	chr1:80539115-80539116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532348060	chr1:80539160-80539161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140103972	chr1:80539199-80539200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190327815	chr1:80539215-80539216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74097165	chr1:80539251-80539252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548379319	chr1:80539275-80539276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566587274	chr1:80539276-80539277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527367071	chr1:80539315-80539316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17104311	chr1:80539340-80539341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147753692	chr1:80539374-80539375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537402097	chr1:80539388-80539389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183237931	chr1:80539434-80539435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531591775	chr1:80539464-80539465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549119152	chr1:80539505-80539506	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80537600-80539800	Enhancers	Fetal Brain Male	brain
2	chr1:80539200-80540200	Enhancers	Fetal Brain Female	brain
3	chr1:80540200-80540800	Weak transcription	Fetal Brain Female	brain
4	chr1:80540800-80541000	Enhancers	Fetal Brain Female	brain
5	chr1:80541000-80541400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:80545200-80545600	Enhancers	Fetal Heart	heart
7	chr1:80545600-80554000	Weak transcription	Fetal Heart	heart
8	chr1:80551000-80553000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:80552000-80552600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:80563600-80568800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:80564600-80565600	Enhancers	Liver	Liver
12	chr1:80565600-80566000	Flanking Active TSS	Liver	Liver
13	chr1:80566000-80566200	Enhancers	Liver	Liver
14	chr1:80577800-80578400	Weak transcription	Liver	Liver
15	chr1:80578600-80579000	Enhancers	Liver	Liver
16	chr1:80579000-80579200	Flanking Active TSS	Liver	Liver
17	chr1:80579200-80579400	Enhancers	Liver	Liver
18	chr1:80579400-80579600	Flanking Active TSS	Liver	Liver
19	chr1:80579600-80580200	Enhancers	Liver	Liver

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