Variant report

Variant	nsv870929
Chromosome Location	chr1:73644577-73776673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:73649075-73649509	GM12878	blood:	n/a	chr1:73649321-73649332 chr1:73649293-73649304 chr1:73649265-73649276
2	CEBPB	chr1:73686066-73686343	HepG2	liver:	n/a	chr1:73686199-73686212 chr1:73686201-73686210 chr1:73686200-73686211 chr1:73686199-73686210
3	CEBPB	chr1:73760044-73760362	HepG2	liver:	n/a	chr1:73760197-73760208
4	CEBPB	chr1:73672624-73672710	K562	blood:	n/a	n/a
5	CEBPB	chr1:73647386-73647575	HepG2	liver:	n/a	n/a
6	CTCF	chr1:73671440-73671590	HepG2	liver:	n/a	n/a
7	CTCF	chr1:73668921-73668931	ProgFib	skin:	n/a	n/a
8	CTCF	chr1:73671440-73671590	BE2_C	brain:	n/a	n/a
9	CTCF	chr1:73671360-73671510	NHEK	skin:	n/a	n/a
10	CTCF	chr1:73671380-73671530	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr1:73671400-73671550	HRE	kidney:	n/a	n/a
12	CTCF	chr1:73671360-73671510	GM06990	blood:	n/a	n/a
13	CTCF	chr1:73671420-73671570	GM12869	blood:	n/a	n/a
14	CTCF	chr1:73671380-73671530	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr1:73687129-73687179	GM10248	blood:	n/a	n/a
16	CTCF	chr1:73671360-73671510	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:73671428-73671504	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:73668904-73668920	ProgFib	skin:	n/a	n/a
19	CTCF	chr1:73671423-73671536	LNCaP	prostate:	n/a	n/a
20	CTCF	chr1:73671380-73671530	GM12871	blood:	n/a	n/a
21	CTCF	chr1:73671400-73671550	GM12872	blood:	n/a	n/a
22	CTCF	chr1:73671400-73671550	HMEC	breast:	n/a	n/a
23	CTCF	chr1:73716060-73716095	GM20000	blood:	n/a	n/a
24	CTCF	chr1:73671425-73671554	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:73671420-73671570	GM12873	blood:	n/a	n/a
26	CTCF	chr1:73671429-73671498	GM12892	blood:	n/a	n/a
27	CTCF	chr1:73650000-73650150	HCM	heart:	n/a	n/a
28	CTCF	chr1:73671309-73671671	GM12878	blood:	n/a	n/a
29	CTCF	chr1:73670856-73670888	Fibrobl	skin:	n/a	n/a
30	CTCF	chr1:73671340-73671490	HMEC	breast:	n/a	n/a
31	CTCF	chr1:73671420-73671570	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr1:73671400-73671550	GM12868	blood:	n/a	n/a
33	CTCF	chr1:73671275-73671578	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:73711154-73711208	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr1:73671425-73671502	GM19239	blood:	n/a	n/a
36	CTCF	chr1:73687730-73687779	Lung_OC	lung:	n/a	n/a
37	CTCF	chr1:73671400-73671550	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:73671420-73671570	NHEK	skin:	n/a	n/a
39	CTCF	chr1:73671428-73671503	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:73671420-73671570	RPTEC	kidney:	n/a	n/a
41	CTCF	chr1:73671440-73671590	GM12865	blood:	n/a	n/a
42	CTCF	chr1:73671580-73671730	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:73716102-73716104	GM20000	blood:	n/a	n/a
44	CTCF	chr1:73671427-73671559	LNCaP	prostate:	n/a	n/a
45	CTCF	chr1:73671420-73671570	GM12878	blood:	n/a	n/a
46	CTCF	chr1:73671304-73671597	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:73671380-73671530	GM12865	blood:	n/a	n/a
48	CTCF	chr1:73671440-73671590	HEK293	kidney:	n/a	n/a
49	CTCF	chr1:73671441-73671544	GM13976	blood:	n/a	n/a
50	CTCF	chr1:73671420-73671570	GM12870	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73719821..73721687-chr1:73728566..73730529,2	K562	blood:
2	chr1:73719821..73721687-chr1:73728566..73730529,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
2	lnc-FPGT-3	chr1:73771912-73771957	XLOC_000256
3	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
4	lnc-FPGT-3	chr1:73776535-73776673	NONHSAT003934
5	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
6	lnc-LRRIQ3-1	chr1:73657287-73657538	NONHSAT003933
7	lnc-FPGT-3	chr1:73771853-73771957	ENSG00000233973
8	lnc-FPGT-3	chr1:73771821-73771980	XLOC_000256
9	lnc-FPGT-3	chr1:73771634-73771980	NONHSAT003934
10	lnc-FPGT-3	chr1:73771853-73771957	XLOC_000256
11	lnc-FPGT-3	chr1:73772851-73773046	ENSG00000233973
12	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
13	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
14	lnc-FPGT-3	chr1:73776536-73776673	ENSG00000233973
15	lnc-FPGT-3	chr1:73772851-73773046	XLOC_000256
16	lnc-FPGT-3	chr1:73772899-73773046	XLOC_000256
17	lnc-FPGT-3	chr1:73772851-73773255	XLOC_000256
18	lnc-FPGT-3	chr1:73771635-73771957	XLOC_000256
19	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
20	lnc-FPGT-3	chr1:73771917-73771957	XLOC_000256
21	lnc-FPGT-3	chr1:73772850-73773255	NONHSAT003934
22	lnc-FPGT-3	chr1:73771922-73771957	XLOC_000256
23	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
24	lnc-FPGT-3	chr1:73771821-73771980	XLOC_000256
25	lnc-FPGT-3	chr1:73771821-73771957	XLOC_000256
26	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
27	lnc-FPGT-3	chr1:73771821-73771980	XLOC_000256

No data

Variant related genes	Relation type
RN7SKP19	TF binding region
ENSG00000233973	TF binding region
CEP350	miRNA target sites
CEP68	miRNA target sites

Extended variants
information (count: 569 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4384175	chr1:73644577-73644578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527850742	chr1:73644631-73644632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4592219	chr1:73644670-73644671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192750566	chr1:73644725-73644726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536257740	chr1:73644755-73644756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556521127	chr1:73644766-73644767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184097898	chr1:73644769-73644770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4503305	chr1:73644787-73644788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527428252	chr1:73644818-73644819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368930272	chr1:73644842-73644843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188091820	chr1:73644860-73644861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144380788	chr1:73644874-73644875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554255425	chr1:73644878-73644879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574187084	chr1:73644885-73644886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10890016	chr1:73644897-73644898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181008164	chr1:73644954-73644955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531945485	chr1:73645017-73645018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148807375	chr1:73645018-73645019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565548033	chr1:73645041-73645042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368902617	chr1:73645046-73645047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34911327	chr1:73645103-73645104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35578487	chr1:73645150-73645151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547968406	chr1:73645164-73645165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35209284	chr1:73645238-73645239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74322329	chr1:73645289-73645290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569489698	chr1:73645353-73645354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34548060	chr1:73645418-73645419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143204439	chr1:73645428-73645429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375039198	chr1:73645453-73645454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113596086	chr1:73645473-73645474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538630435	chr1:73645494-73645495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186252737	chr1:73645605-73645606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201371329	chr1:73645692-73645693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200947852	chr1:73645693-73645694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565598631	chr1:73645723-73645724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12137298	chr1:73645739-73645740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554339377	chr1:73645740-73645741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574475623	chr1:73645791-73645792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6701194	chr1:73645792-73645793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147511007	chr1:73645794-73645795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576791354	chr1:73645799-73645800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35350320	chr1:73645820-73645821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6703944	chr1:73645830-73645831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6703953	chr1:73645866-73645867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561453473	chr1:73645881-73645882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190406693	chr1:73645932-73645933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530075131	chr1:73645959-73645960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181638296	chr1:73646064-73646065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544970687	chr1:73646079-73646080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11210172	chr1:73646085-73646086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73642600-73651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:73642800-73653600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:73651000-73651200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:73651200-73651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:73651400-73652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:73652800-73653400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:73653200-73653600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:73653200-73653600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:73653200-73653800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:73653400-73653800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:73653600-73653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:73653800-73654000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:73664600-73665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:73671000-73671200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:73693600-73694000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:73693800-73694400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:73693800-73695200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:73745200-73745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:73752800-73753000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:73766600-73766800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:73766800-73767000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:73772800-73773200	Enhancers	Liver	Liver
23	chr1:73776200-73777000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:73776400-73776800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:73776400-73776800	Enhancers	Ovary	ovary
26	chr1:73776400-73777000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:73776400-73777200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:73776600-73777000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:73776600-73777000	Enhancers	Fetal Heart	heart
30	chr1:73776600-73777200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:73776600-73777200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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