Variant report

Variant	nsv546655
Chromosome Location	chr1:80521379-80563300
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	chr1:80548886-80548916	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:80549615-80549808	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr1:80555874-80556123	HepG2	liver:	n/a	chr1:80555985-80555998 chr1:80555986-80555997
4	CEBPB	chr1:80548985-80549185	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:80555874-80556156	IMR90	lung:	n/a	chr1:80555985-80555998 chr1:80555986-80555997
6	CTCF	chr1:80539526-80539570	GM20000	blood:	n/a	n/a
7	CTCF	chr1:80525500-80525650	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr1:80548678-80548691	GM20000	blood:	n/a	n/a
9	CTCF	chr1:80525520-80525670	HCFaa	heart:	n/a	n/a
10	CTCF	chr1:80548693-80548790	GM20000	blood:	n/a	n/a
11	CTCF	chr1:80525500-80525650	HEK293	kidney:	n/a	n/a
12	CTCF	chr1:80525480-80525630	HEK293	kidney:	n/a	n/a
13	CTCF	chr1:80525580-80525730	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr1:80549600-80549750	MCF-7	breast:	n/a	n/a
15	CUX1	chr1:80560706-80560736	GM12878	blood:	n/a	n/a
16	E2F4	chr1:80525847-80526014	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr1:80522052-80522252	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:80530263-80530560	HUVEC	blood vessel:	n/a	chr1:80530401-80530412
19	FOS	chr1:80521879-80522152	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:80530268-80530557	MCF10A-Er-Src	breast:	n/a	chr1:80530401-80530412
21	FOS	chr1:80530228-80530609	MCF10A-Er-Src	breast:	n/a	chr1:80530401-80530412
22	FOS	chr1:80525691-80526046	MCF10A-Er-Src	breast:	n/a	chr1:80525857-80525868
23	FOS	chr1:80525719-80526027	HUVEC	blood vessel:	n/a	chr1:80525857-80525868
24	FOS	chr1:80530223-80530595	MCF10A-Er-Src	breast:	n/a	chr1:80530401-80530412
25	FOS	chr1:80521823-80522209	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:80530222-80530584	MCF10A-Er-Src	breast:	n/a	chr1:80530401-80530412
27	FOS	chr1:80521965-80522165	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:80525743-80526040	MCF10A-Er-Src	breast:	n/a	chr1:80525857-80525868
29	FOXA1	chr1:80549477-80549916	T-47D	breast:	n/a	n/a
30	FOXA1	chr1:80549610-80549839	HepG2	liver:	n/a	n/a
31	FOXA1	chr1:80549609-80549832	HepG2	liver:	n/a	n/a
32	FOXA1	chr1:80549561-80549820	T-47D	breast:	n/a	n/a
33	FOXA1	chr1:80549567-80549835	HepG2	liver:	n/a	n/a
34	FOXA2	chr1:80549610-80549881	A549	lung:	n/a	n/a
35	FOXA2	chr1:80549639-80549810	HepG2	liver:	n/a	n/a
36	GATA3	chr1:80549558-80550175	MCF-7	breast:	n/a	n/a
37	GATA3	chr1:80549558-80549920	MCF-7	breast:	n/a	n/a
38	JUN	chr1:80561090-80561169	K562	blood:	n/a	n/a
39	JUND	chr1:80546097-80546368	HepG2	liver:	n/a	chr1:80546262-80546271
40	JUND	chr1:80534005-80534225	HepG2	liver:	n/a	chr1:80534129-80534138
41	KAP1	chr1:80547980-80548360	K562	blood:	n/a	n/a
42	MAFF	chr1:80546419-80546597	HepG2	liver:	n/a	n/a
43	MAFF	chr1:80549654-80549842	HepG2	liver:	n/a	chr1:80549754-80549772
44	MAFK	chr1:80546463-80546676	HepG2	liver:	n/a	chr1:80546547-80546562
45	MAFK	chr1:80549631-80549777	HepG2	liver:	n/a	chr1:80549756-80549767 chr1:80549756-80549771 chr1:80549756-80549767
46	MAFK	chr1:80546467-80546664	IMR90	lung:	n/a	chr1:80546547-80546562
47	MAFK	chr1:80549631-80549782	HepG2	liver:	n/a	chr1:80549756-80549767 chr1:80549756-80549771 chr1:80549756-80549767
48	MAFK	chr1:80546460-80546646	HepG2	liver:	n/a	chr1:80546547-80546562
49	MAX	chr1:80525577-80526041	NB4	blood:	n/a	n/a
50	MYC	chr1:80542253-80542259	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-11	chr1:80557788-80558922	NONHSAT004104

Variant related genes	Relation type
ENSG00000235756	TF binding region

Extended variants
information (count: 1017 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs951405	chr1:80521379-80521380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12747958	chr1:80521397-80521398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568438280	chr1:80521419-80521420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535716852	chr1:80521445-80521446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140679319	chr1:80521461-80521462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145883275	chr1:80521464-80521465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200209208	chr1:80521466-80521467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539596599	chr1:80521470-80521471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558220839	chr1:80521471-80521472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576561865	chr1:80521472-80521473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543839458	chr1:80521473-80521474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201612013	chr1:80521477-80521478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183281632	chr1:80521480-80521481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148177658	chr1:80521483-80521484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571236264	chr1:80521559-80521560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150603226	chr1:80521587-80521588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559312740	chr1:80521591-80521592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565918260	chr1:80521592-80521593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138726632	chr1:80521660-80521661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544836684	chr1:80521668-80521669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10874112	chr1:80521815-80521816	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530495178	chr1:80521923-80521924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558076619	chr1:80521949-80521950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534621772	chr1:80521964-80521965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367628238	chr1:80521965-80521966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548585824	chr1:80521990-80521991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566909594	chr1:80522021-80522022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567257182	chr1:80522025-80522026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143073725	chr1:80522090-80522091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188597884	chr1:80522147-80522148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566186183	chr1:80522213-80522214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193253476	chr1:80522217-80522218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551633600	chr1:80522248-80522249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570184288	chr1:80522282-80522283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537505734	chr1:80522308-80522309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555832301	chr1:80522321-80522322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574060699	chr1:80522344-80522345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536132186	chr1:80522375-80522376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538869045	chr1:80522407-80522408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534657631	chr1:80522448-80522449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115326311	chr1:80522569-80522570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577815054	chr1:80522586-80522587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147489882	chr1:80522606-80522607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563109865	chr1:80522650-80522651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575031666	chr1:80522663-80522664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542295540	chr1:80522667-80522668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140487174	chr1:80522732-80522733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528084014	chr1:80522739-80522740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376814480	chr1:80522762-80522763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59166024	chr1:80522770-80522771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80520800-80521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:80520800-80530000	Weak transcription	NHEK	skin
3	chr1:80521800-80522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:80522400-80525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:80525400-80525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:80525800-80529800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:80526000-80529800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:80529400-80530800	Enhancers	HMEC	breast
9	chr1:80529800-80530200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:80529800-80530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:80530000-80530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:80530000-80530400	Enhancers	NHEK	skin
13	chr1:80530000-80532400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:80530200-80531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:80530200-80531800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:80530400-80531600	Weak transcription	NHEK	skin
17	chr1:80530800-80531800	Weak transcription	HMEC	breast
18	chr1:80531200-80532200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:80531600-80532000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:80531600-80532000	Enhancers	NH-A	brain
21	chr1:80531600-80532200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:80531600-80532200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:80531800-80532000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:80531800-80532000	Enhancers	NHEK	skin
25	chr1:80531800-80532200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:80531800-80532600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:80532000-80532200	Enhancers	HMEC	breast
28	chr1:80537600-80539800	Enhancers	Fetal Brain Male	brain
29	chr1:80539200-80540200	Enhancers	Fetal Brain Female	brain
30	chr1:80540200-80540800	Weak transcription	Fetal Brain Female	brain
31	chr1:80540800-80541000	Enhancers	Fetal Brain Female	brain
32	chr1:80541000-80541400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:80545200-80545600	Enhancers	Fetal Heart	heart
34	chr1:80545600-80554000	Weak transcription	Fetal Heart	heart
35	chr1:80551000-80553000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:80552000-80552600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links