Variant report

Variant	nsv871527
Chromosome Location	chr1:74501477-74560002
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	CEBPB	chr1:74517121-74517299	HepG2	liver:	n/a	chr1:74517238-74517249
2	CTCF	chr1:74530020-74530170	GM06990	blood:	n/a	n/a
3	E2F4	chr1:74550975-74551124	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr1:74508537-74508557	GM12878	blood:	n/a	n/a
5	FOS	chr1:74519088-74519420	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:74519112-74519404	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:74519056-74519420	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:74519012-74519380	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA2	chr1:74521893-74522172	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr1:74521894-74522227	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr1:74524174-74524347	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr1:74543769-74543951	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr1:74537223-74537451	SH-SY5Y	brain:	n/a	n/a
14	GTF2F1	chr1:74515315-74515333	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUN	chr1:74514221-74514342	K562	blood:	n/a	n/a
16	MAFF	chr1:74523427-74523763	HepG2	liver:	n/a	n/a
17	MAFF	chr1:74523482-74523739	K562	blood:	n/a	n/a
18	MAFF	chr1:74515220-74515340	K562	blood:	n/a	chr1:74515290-74515308
19	MAFF	chr1:74515203-74515372	HepG2	liver:	n/a	chr1:74515290-74515308
20	MAFK	chr1:74523441-74523772	IMR90	lung:	n/a	n/a
21	MAFK	chr1:74523421-74523781	HepG2	liver:	n/a	n/a
22	MAFK	chr1:74515145-74515345	HepG2	liver:	n/a	chr1:74515292-74515307
23	MAFK	chr1:74523477-74523687	Hela-S3	cervix:	n/a	n/a
24	MAFK	chr1:74523425-74523772	HepG2	liver:	n/a	n/a
25	MAFK	chr1:74525156-74525335	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFK	chr1:74523484-74523745	K562	blood:	n/a	n/a
27	MAFK	chr1:74550728-74550866	HepG2	liver:	n/a	n/a
28	MAFK	chr1:74515140-74515433	HepG2	liver:	n/a	chr1:74515292-74515307
29	MAFK	chr1:74515156-74515356	IMR90	lung:	n/a	chr1:74515292-74515307
30	MAX	chr1:74548699-74548953	NB4	blood:	n/a	chr1:74548799-74548809
31	MAZ	chr1:74548863-74549022	HepG2	liver:	n/a	n/a
32	MYC	chr1:74519219-74519400	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr1:74552045-74552245	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr1:74514544-74514744	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr1:74554992-74555144	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:74542892-74542901	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr1:74535134-74535480	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:74503105-74503170	HepG2	liver:	n/a	n/a
39	STAT3	chr1:74550379-74550579	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr1:74514622-74514642	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr1:74512566-74512576	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr1:74516490-74516501	MCF10A-Er-Src	breast:	n/a	n/a
43	ZNF143	chr1:74557176-74557389	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:74531200..74533536-chr1:74537407..74539060,2	K562	blood:
2	chr1:74203558..74206334-chr1:74548002..74550871,2	K562	blood:
3	chr1:74532016..74533642-chr1:74533739..74535417,2	MCF-7	breast:
4	chr1:74532016..74533642-chr1:74533739..74535417,2	MCF-7	breast:
5	chr1:74531200..74533536-chr1:74537407..74539060,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC53-2	chr1:74549477-74549900	NONHSAT003955

Variant related genes	Relation type
LRRIQ3	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77428096	chr1:74538807-74538808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565908201	chr1:74538892-74538893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78837849	chr1:74538915-74538916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184661789	chr1:74538971-74538972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115481214	chr1:74538976-74538977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113063785	chr1:74538978-74538979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562060682	chr1:74539082-74539083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115810319	chr1:74539109-74539110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368219639	chr1:74539110-74539111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12742029	chr1:74539128-74539129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541195884	chr1:74539162-74539163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188586379	chr1:74539175-74539176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150618239	chr1:74539193-74539194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375364121	chr1:74539194-74539195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76692879	chr1:74541407-74541408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538641995	chr1:74541431-74541432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77907725	chr1:74541459-74541460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573943940	chr1:74541499-74541500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79383044	chr1:74541516-74541517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111440553	chr1:74541532-74541533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555162602	chr1:74541534-74541535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200559010	chr1:74541543-74541544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146775692	chr1:74541580-74541581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534528430	chr1:74541619-74541620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139548179	chr1:74541632-74541633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562755250	chr1:74541683-74541684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533173155	chr1:74541727-74541728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548999982	chr1:74542896-74542897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554365326	chr1:74542901-74542902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111233785	chr1:74543808-74543809	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186072368	chr1:74543812-74543813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375595741	chr1:74543814-74543815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562633908	chr1:74543825-74543826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574638646	chr1:74543832-74543833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573954286	chr1:74543868-74543869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560483609	chr1:74543881-74543882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs527803352	chr1:74543902-74543903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs17589679	chr1:74543916-74543917	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564697198	chr1:74543922-74543923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs371034591	chr1:74543950-74543951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549649348	chr1:74546273-74546274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568155174	chr1:74546323-74546324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566745223	chr1:74546348-74546349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528947222	chr1:74546359-74546360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192487333	chr1:74546396-74546397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565844639	chr1:74546402-74546403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536685900	chr1:74546404-74546405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539778218	chr1:74546418-74546419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558009712	chr1:74546442-74546443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7355022	chr1:74546443-74546444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74538800-74539200	Enhancers	Pancreas	Pancrea
2	chr1:74541400-74541800	Enhancers	Fetal Heart	heart
3	chr1:74546200-74546600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:74546200-74546600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:74546200-74547200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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