Variant report

Variant	nsv546570
Chromosome Location	chr1:73665844-73771345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:73686066-73686343	HepG2	liver:	n/a	chr1:73686199-73686212 chr1:73686201-73686210 chr1:73686200-73686211 chr1:73686199-73686210
2	CEBPB	chr1:73760044-73760362	HepG2	liver:	n/a	chr1:73760197-73760208
3	CEBPB	chr1:73672624-73672710	K562	blood:	n/a	n/a
4	CTCF	chr1:73716102-73716104	GM20000	blood:	n/a	n/a
5	CTCF	chr1:73671425-73671502	GM19239	blood:	n/a	n/a
6	CTCF	chr1:73671400-73671550	HEK293	kidney:	n/a	n/a
7	CTCF	chr1:73671380-73671530	RPTEC	kidney:	n/a	n/a
8	CTCF	chr1:73730377-73730445	GM13976	blood:	n/a	n/a
9	CTCF	chr1:73671360-73671510	GM12865	blood:	n/a	n/a
10	CTCF	chr1:73671408-73671510	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:73671380-73671530	Caco-2	colon:	n/a	n/a
12	CTCF	chr1:73671438-73671574	GM13977	blood:	n/a	n/a
13	CTCF	chr1:73671420-73671570	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr1:73687129-73687179	GM10248	blood:	n/a	n/a
15	CTCF	chr1:73671460-73671610	HAc	cerebellar:	n/a	n/a
16	CTCF	chr1:73671360-73671510	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:73671360-73671510	GM06990	blood:	n/a	n/a
18	CTCF	chr1:73671425-73671554	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr1:73671461-73671497	Gliobla	brain:	n/a	n/a
20	CTCF	chr1:73671380-73671530	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr1:73671423-73671536	LNCaP	prostate:	n/a	n/a
22	CTCF	chr1:73671360-73671510	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr1:73671400-73671550	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:73671420-73671570	GM12878	blood:	n/a	n/a
25	CTCF	chr1:73671400-73671550	HMEC	breast:	n/a	n/a
26	CTCF	chr1:73671428-73671504	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:73669052-73669128	Medullo	brain:	n/a	n/a
28	CTCF	chr1:73671380-73671530	GM12871	blood:	n/a	n/a
29	CTCF	chr1:73671425-73671557	GM12878	blood:	n/a	n/a
30	CTCF	chr1:73671382-73671594	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:73711680-73711830	GM12866	blood:	n/a	n/a
32	CTCF	chr1:73671420-73671570	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr1:73671401-73671580	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:73671304-73671597	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:73671428-73671503	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:73671420-73671570	GM12870	blood:	n/a	n/a
37	CTCF	chr1:73671360-73671510	NHEK	skin:	n/a	n/a
38	CTCF	chr1:73671460-73671610	GM12875	blood:	n/a	n/a
39	CTCF	chr1:73671420-73671570	NHEK	skin:	n/a	n/a
40	CTCF	chr1:73671420-73671570	RPTEC	kidney:	n/a	n/a
41	CTCF	chr1:73671427-73671559	LNCaP	prostate:	n/a	n/a
42	CTCF	chr1:73668904-73668920	ProgFib	skin:	n/a	n/a
43	CTCF	chr1:73687730-73687779	Lung_OC	lung:	n/a	n/a
44	CTCF	chr1:73671400-73671550	GM12872	blood:	n/a	n/a
45	CTCF	chr1:73671441-73671544	GM13976	blood:	n/a	n/a
46	CTCF	chr1:73671401-73671584	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:73668921-73668931	ProgFib	skin:	n/a	n/a
48	CTCF	chr1:73671440-73671590	HEK293	kidney:	n/a	n/a
49	CTCF	chr1:73671340-73671490	HMEC	breast:	n/a	n/a
50	CTCF	chr1:73671380-73671530	GM12878	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:

No data

Variant related genes	Relation type
ENSG00000233973	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183945874	chr1:73671011-73671012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113557874	chr1:73671016-73671017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76544336	chr1:73671034-73671035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575832823	chr1:73671064-73671065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188718433	chr1:73671072-73671073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564546675	chr1:73671181-73671182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533518377	chr1:73671194-73671195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545106372	chr1:73693629-73693630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75525382	chr1:73693641-73693642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192799848	chr1:73693649-73693650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560107825	chr1:73693663-73693664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558487633	chr1:73693669-73693670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572252123	chr1:73693677-73693678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541153589	chr1:73693696-73693697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554698826	chr1:73693697-73693698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574522063	chr1:73693700-73693701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185554457	chr1:73693722-73693723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79582491	chr1:73693743-73693744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576681841	chr1:73693774-73693775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79444453	chr1:73693780-73693781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565367848	chr1:73693787-73693788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190658865	chr1:73693842-73693843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs36044602	chr1:73693880-73693881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372113054	chr1:73693910-73693911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374293013	chr1:73693911-73693912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547527073	chr1:73693946-73693947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575139164	chr1:73693949-73693950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181492994	chr1:73694143-73694144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547274044	chr1:73694157-73694158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530089217	chr1:73694210-73694211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552122738	chr1:73694253-73694254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184587165	chr1:73694265-73694266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569998101	chr1:73694308-73694309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538588885	chr1:73694329-73694330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552423745	chr1:73694344-73694345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188558167	chr1:73694387-73694388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145204177	chr1:73694401-73694402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35349473	chr1:73694475-73694476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529533010	chr1:73694598-73694599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4129350	chr1:73694600-73694601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554761755	chr1:73694624-73694625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145760908	chr1:73694636-73694637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148956569	chr1:73694693-73694694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377723674	chr1:73694736-73694737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181180476	chr1:73694746-73694747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556718517	chr1:73694798-73694799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185828588	chr1:73694809-73694810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113614010	chr1:73694813-73694814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565229738	chr1:73694850-73694851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572363411	chr1:73694853-73694854	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
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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73671000-73671200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:73693600-73694000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:73693800-73694400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:73693800-73695200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:73745200-73745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:73752800-73753000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:73766600-73766800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:73766800-73767000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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