Variant report

Variant	nsv462272
Chromosome Location	chr1:80839278-80909417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:267)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:80883213-80883325	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:80846825-80847141	Hela-S3	cervix:	n/a	chr1:80847004-80847015
3	CEBPB	chr1:80858020-80858759	MCF-7	breast:	n/a	n/a
4	CEBPB	chr1:80840764-80841890	Hela-S3	cervix:	n/a	chr1:80840946-80840957
5	CEBPB	chr1:80858137-80858634	A549	lung:	n/a	n/a
6	CEBPB	chr1:80840795-80841063	A549	lung:	n/a	chr1:80840946-80840957
7	CEBPB	chr1:80846876-80847176	IMR90	lung:	n/a	chr1:80847004-80847015
8	CEBPB	chr1:80858289-80858669	A549	lung:	n/a	n/a
9	CEBPB	chr1:80840786-80841111	HepG2	liver:	n/a	chr1:80840946-80840957
10	CEBPB	chr1:80858095-80858832	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:80858164-80858591	MCF-7	breast:	n/a	n/a
12	CEBPB	chr1:80871572-80871772	HepG2	liver:	n/a	chr1:80871641-80871652
13	CEBPB	chr1:80840772-80841661	IMR90	lung:	n/a	chr1:80840946-80840957
14	CEBPB	chr1:80858254-80858574	A549	lung:	n/a	n/a
15	CEBPB	chr1:80846904-80847143	K562	blood:	n/a	chr1:80847004-80847015
16	CTCF	chr1:80907460-80907610	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr1:80907420-80907570	HAc	cerebellar:	n/a	n/a
18	CTCF	chr1:80907500-80907650	RPTEC	kidney:	n/a	n/a
19	CTCF	chr1:80907500-80907650	Caco-2	colon:	n/a	n/a
20	CTCF	chr1:80907505-80907645	GM12878	blood:	n/a	n/a
21	CTCF	chr1:80907440-80907590	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr1:80899560-80899710	GM12871	blood:	n/a	n/a
23	CTCF	chr1:80907480-80907630	HMEC	breast:	n/a	n/a
24	CTCF	chr1:80907440-80907590	BE2_C	brain:	n/a	n/a
25	CTCF	chr1:80907423-80907665	Gliobla	brain:	n/a	n/a
26	CTCF	chr1:80907484-80907572	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:80907468-80907577	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr1:80907400-80907550	NB4	blood:	n/a	n/a
29	CTCF	chr1:80907480-80907630	GM06990	blood:	n/a	n/a
30	CTCF	chr1:80907380-80907530	A549	lung:	n/a	n/a
31	CTCF	chr1:80907445-80907633	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:80907460-80907610	HCT-116	colon:	n/a	n/a
33	CTCF	chr1:80907420-80907570	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr1:80889780-80889930	HMEC	breast:	n/a	n/a
35	CTCF	chr1:80907460-80907610	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr1:80907480-80907630	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr1:80907500-80907650	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr1:80907482-80907644	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr1:80907431-80907663	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:80907495-80907569	LNCaP	prostate:	n/a	n/a
41	CTCF	chr1:80907460-80907610	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr1:80889740-80889890	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:80907480-80907630	GM12873	blood:	n/a	n/a
44	CTCF	chr1:80907392-80907640	T-47D	breast:	n/a	n/a
45	CTCF	chr1:80907522-80907555	GM19238	blood:	n/a	n/a
46	CTCF	chr1:80907474-80907597	LNCaP	prostate:	n/a	n/a
47	CTCF	chr1:80907520-80907670	HEK293	kidney:	n/a	n/a
48	CTCF	chr1:80907420-80907570	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:80907420-80907570	GM12872	blood:	n/a	n/a
50	CTCF	chr1:80907481-80907557	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:80879820..80881703-chr1:80888899..80891310,2	MCF-7	breast:
2	chr1:80908006..80910063-chr1:80913147..80915791,2	K562	blood:
3	chr1:80879820..80881703-chr1:80888899..80891310,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPHN2-10	chr1:80884836-80885061	NONHSAT004110
2	lnc-LPHN2-10	chr1:80884836-80885061	NONHSAT004113
3	lnc-ELTD1-7	chr1:80839049-80839443	XLOC_000882
4	lnc-LPHN2-10	chr1:80884836-80885114	l_76_chr1:80879560-80885114_adrenal
5	lnc-LPHN2-10	chr1:80882498-80882626	NONHSAT004110
6	lnc-ELTD1-7	chr1:80840122-80840306	XLOC_000882
7	lnc-LPHN2-10	chr1:80882498-80882626	l_76_chr1:80879560-80885114_adrenal
8	lnc-LPHN2-10	chr1:80879557-80879674	NONHSAT004113
9	lnc-LPHN2-10	chr1:80879561-80879674	l_76_chr1:80879560-80885114_adrenal
10	lnc-LPHN2-10	chr1:80882498-80882626	NONHSAT004113
11	lnc-LPHN2-10	chr1:80882498-80882626	NONHSAT004109
12	lnc-LPHN2-10	chr1:80884836-80885061	NONHSAT004109

No data

Variant related genes	Relation type
ENSG00000225598	TF binding region

Extended variants
information (count: 1136 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1937787	chr1:80839278-80839279	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187139231	chr1:80839310-80839311	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs72933137	chr1:80839327-80839328	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557039372	chr1:80839338-80839339	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs191099468	chr1:80839341-80839342	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs139920831	chr1:80839382-80839383	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs72039079	chr1:80839383-80839384	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536698675	chr1:80839416-80839417	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs553551113	chr1:80839437-80839438	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs7533746	chr1:80839452-80839453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13374328	chr1:80839485-80839486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187036393	chr1:80839489-80839490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575822288	chr1:80839562-80839563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544907979	chr1:80839567-80839568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116156134	chr1:80839645-80839646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528899487	chr1:80839676-80839677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190254033	chr1:80839689-80839690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559054486	chr1:80839706-80839707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34157210	chr1:80839711-80839712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77218882	chr1:80839733-80839734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12060711	chr1:80839757-80839758	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571433466	chr1:80839766-80839767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530675161	chr1:80839784-80839785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182507917	chr1:80839798-80839799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187468041	chr1:80839814-80839815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567662160	chr1:80839849-80839850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150828122	chr1:80839853-80839854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74439267	chr1:80839886-80839887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553489685	chr1:80839888-80839889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573337515	chr1:80839914-80839915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566999634	chr1:80839918-80839919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539160062	chr1:80839948-80839949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28594253	chr1:80839967-80839968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575806711	chr1:80840002-80840003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373785924	chr1:80840067-80840068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28491481	chr1:80840074-80840075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574145920	chr1:80840080-80840081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555281168	chr1:80840124-80840125	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs573284642	chr1:80840151-80840152	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs542240692	chr1:80840164-80840165	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs28673042	chr1:80840173-80840174	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs36037601	chr1:80840222-80840223	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs543021771	chr1:80840241-80840242	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs116300050	chr1:80840252-80840253	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs558019369	chr1:80840275-80840276	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532483531	chr1:80840322-80840323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564883755	chr1:80840338-80840339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530781185	chr1:80840359-80840360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532395453	chr1:80840375-80840376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192868678	chr1:80840389-80840390	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80832200-80840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:80839000-80843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:80839200-80842000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:80839400-80840800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:80840000-80840800	Enhancers	HSMMtube	muscle
6	chr1:80840000-80841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:80840000-80842000	Enhancers	HMEC	breast
8	chr1:80840600-80841800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:80840600-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:80840600-80842400	Enhancers	Fetal Heart	heart
11	chr1:80840600-80842800	Enhancers	Hela-S3	cervix
12	chr1:80840800-80841400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:80840800-80841600	Weak transcription	HSMMtube	muscle
14	chr1:80840800-80842000	Enhancers	NHEK	skin
15	chr1:80841000-80841400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:80841400-80842000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:80841400-80842200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:80841600-80842000	Enhancers	HSMMtube	muscle
19	chr1:80842000-80846200	Weak transcription	HMEC	breast
20	chr1:80842200-80842600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:80842200-80843000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:80850800-80851800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:80851000-80851600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:80851000-80851800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:80851200-80851800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:80854000-80854600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:80857000-80857200	Enhancers	Stomach Mucosa	stomach
28	chr1:80857000-80859600	Enhancers	HUVEC	blood vessel
29	chr1:80857400-80858400	Weak transcription	Stomach Mucosa	stomach
30	chr1:80857600-80857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:80857600-80858800	Enhancers	Hela-S3	cervix
32	chr1:80857800-80858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:80857800-80859600	Enhancers	HMEC	breast
34	chr1:80858000-80858800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:80858200-80858800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:80858200-80859400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:80858400-80858800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:80858400-80859000	Enhancers	Stomach Mucosa	stomach
39	chr1:80858400-80859400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:80858600-80858800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:80858600-80859400	Enhancers	Esophagus	oesophagus
42	chr1:80858600-80859600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:80863600-80865800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:80865800-80866200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:80868400-80869600	Enhancers	Fetal Heart	heart
46	chr1:80874800-80875200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
47	chr1:80882600-80884000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:80882600-80884000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:80882600-80884000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:80882600-80884000	Enhancers	HMEC	breast

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