Variant report

Variant	nsv818211
Chromosome Location	chr1:71603703-71633719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:71625376-71625509	A549	lung:	n/a	chr1:71625437-71625450 chr1:71625438-71625449
2	CEBPB	chr1:71625304-71625534	HepG2	liver:	n/a	chr1:71625437-71625450 chr1:71625438-71625449
3	CTCF	chr1:71612880-71613030	HEK293	kidney:	n/a	n/a
4	E2F4	chr1:71622896-71623128	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr1:71626997-71627172	GM12878	blood:	n/a	n/a
6	FOS	chr1:71622914-71623114	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:71622905-71623108	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:71622904-71623107	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr1:71620232-71620432	ECC-1	luminal epithelium:	n/a	n/a
10	GATA3	chr1:71630400-71630551	SH-SY5Y	brain:	n/a	n/a
11	JUND	chr1:71632484-71632491	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr1:71622635-71623223	U2OS	brain:	n/a	n/a
13	MAFF	chr1:71613701-71613991	K562	blood:	n/a	chr1:71613828-71613846
14	MAFF	chr1:71613660-71614022	HepG2	liver:	n/a	chr1:71613828-71613846
15	MAFK	chr1:71613665-71614020	HepG2	liver:	n/a	chr1:71613830-71613845
16	MAFK	chr1:71630030-71630204	HepG2	liver:	n/a	n/a
17	MAFK	chr1:71613699-71613998	Hela-S3	cervix:	n/a	chr1:71613830-71613845
18	MAFK	chr1:71613668-71614018	IMR90	lung:	n/a	chr1:71613830-71613845
19	MAFK	chr1:71613752-71614031	GM12878	blood:	n/a	chr1:71613830-71613845
20	MAFK	chr1:71613680-71614012	HepG2	liver:	n/a	chr1:71613830-71613845
21	MAFK	chr1:71613714-71613974	K562	blood:	n/a	chr1:71613830-71613845
22	MAFK	chr1:71613780-71613914	H1-hESC	embryonic stem cell:	n/a	chr1:71613830-71613845
23	MXI1	chr1:71625803-71625867	GM12878	blood:	n/a	n/a
24	MYC	chr1:71629642-71629712	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr1:71614825-71614943	MCF10A-Er-Src	breast:	n/a	n/a
26	NFYB	chr1:71629503-71629703	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:71623470-71623554	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:71621553-71621576	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr1:71624798-71624801	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:71625350-71625371	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr1:71629541-71629595	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr1:71606380-71606456	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr1:71608176-71608376	MCF10A-Er-Src	breast:	n/a	n/a
34	ZNF263	chr1:71632022-71632680	HEK293-T-REx	kidney:	n/a	chr1:71632407-71632428

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71632244-71632294	BJ	skin:	n/a
2	chr1:71632244-71632294	HCPEpiC	choroid plexus:	n/a
3	chr1:71632244-71632294	ECC-1	luminal epithelium:	n/a
4	chr1:71632244-71632294	ovcar-3	ovarian:	n/a
5	chr1:71632244-71632294	U87	brain:	n/a
6	chr1:71632244-71632294	AG09319	gingival:	n/a
7	chr1:71632244-71632294	Jurkat	blood:	n/a
8	chr1:71632244-71632294	HCT-116	colon:	n/a
9	chr1:71632244-71632294	HepG2	liver:	n/a
10	chr1:71632244-71632294	Hepatocyte	liver:	n/a
11	chr1:71632244-71632294	H1-hESC	embryonic stem cell:	embryo
12	chr1:71632244-71632294	AG10803	skin:	n/a
13	chr1:71632244-71632294	NT2-D1	testis:	n/a
14	chr1:71632244-71632294	T-47D	breast:	n/a
15	chr1:71632244-71632294	IMR90	lung:	fetal
16	chr1:71632244-71632294	AG04450	lung:	fetal
17	chr1:71632244-71632294	HL-60	blood:	n/a
18	chr1:71632244-71632294	HEK293	kidney:	embryo
19	chr1:71632244-71632294	LNCaP	prostate:	n/a
20	chr1:71632244-71632294	K562	blood:	n/a
21	chr1:71632244-71632294	CMK	blood:	n/a
22	chr1:71632244-71632294	HRE	kidney:	n/a
23	chr1:71632244-71632294	GM12892	blood:	n/a
24	chr1:71632244-71632294	HCM	heart:	n/a
25	chr1:71632244-71632294	GM19239	blood:	n/a
26	chr1:71632244-71632294	A549	lung:	n/a
27	chr1:71632244-71632294	GM06990	blood:	n/a
28	chr1:71632244-71632294	GM12878	blood:	n/a
29	chr1:71632244-71632294	HIPEpiC	eye:	n/a
30	chr1:71632244-71632294	NB4	blood:	n/a
31	chr1:71632244-71632294	ProgFib	skin:	n/a
32	chr1:71632244-71632294	PrEC	prostate:	n/a
33	chr1:71632244-71632294	SK-N-SH_RA	brain:	n/a
34	chr1:71632244-71632294	RPTEC	kidney:	n/a
35	chr1:71632244-71632294	NHBE	bronchial:	n/a
36	chr1:71632244-71632294	NHDF-neo	bronchial:	n/a
37	chr1:71632244-71632294	BE2_C	brain:	n/a
38	chr1:71632244-71632294	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:71632244-71632294	SKMC	muscle:	n/a
40	chr1:71632244-71632294	AG04449	skin:	fetal
41	chr1:71632244-71632294	HEEpiC	esophagus:	n/a
42	chr1:71632244-71632294	PANC-1	pancreas:	n/a
43	chr1:71632244-71632294	AG09309	skin:	n/a
44	chr1:71632244-71632294	HNPCEpiC	eye:	n/a
45	chr1:71632244-71632294	MCF-7	breast:	n/a
46	chr1:71632244-71632294	HRPEpiC	eye:	n/a
47	chr1:71632244-71632294	HRCEpiC	kidney:	n/a
48	chr1:71632244-71632294	SAEC	small airway:	n/a
49	chr1:71632244-71632294	GM12891	blood:	n/a
50	chr1:71632244-71632294	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71561763..71564195-chr1:71605230..71607303,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264239	TF binding region
ENSG00000264239	CpG island

Extended variants
information (count: 592 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:592 , 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	rs148405710	chr1:71608195-71608196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372874415	chr1:71608226-71608227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190115529	chr1:71608234-71608235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111868508	chr1:71608257-71608258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547298187	chr1:71608266-71608267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs79269731	chr1:71608297-71608298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568640192	chr1:71608306-71608307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138510456	chr1:71618012-71618013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113383828	chr1:71618026-71618027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545510764	chr1:71618067-71618068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558984131	chr1:71618069-71618070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528079551	chr1:71618113-71618114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563576538	chr1:71618121-71618122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541507886	chr1:71618122-71618123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532689540	chr1:71618123-71618124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75649674	chr1:71618183-71618184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530750253	chr1:71618185-71618186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550831926	chr1:71618212-71618213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570684147	chr1:71618229-71618230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144423098	chr1:71618250-71618251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191461600	chr1:71618273-71618274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375058368	chr1:71618276-71618277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200804246	chr1:71618357-71618358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566222175	chr1:71618363-71618364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535110517	chr1:71618399-71618400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554700072	chr1:71618433-71618434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367745962	chr1:71618458-71618459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568420926	chr1:71618472-71618473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578190716	chr1:71618487-71618488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182952845	chr1:71618510-71618511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566100003	chr1:71618529-71618530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188839474	chr1:71618552-71618553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561656151	chr1:71618570-71618571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545414225	chr1:71618579-71618580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75692335	chr1:71618654-71618655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553147805	chr1:71618698-71618699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76820998	chr1:71618727-71618728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561560186	chr1:71618750-71618751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575150961	chr1:71618797-71618798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544196286	chr1:71618814-71618815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192859215	chr1:71618825-71618826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201938009	chr1:71618868-71618869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377248159	chr1:71618878-71618879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370032554	chr1:71618883-71618884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546854301	chr1:71618936-71618937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560370399	chr1:71618981-71618982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12409424	chr1:71619003-71619004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548635549	chr1:71619058-71619059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568376618	chr1:71619084-71619085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537413433	chr1:71619085-71619086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71618000-71623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:71619600-71620600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:71619800-71624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:71620200-71620400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:71620200-71620600	Enhancers	Gastric	stomach
6	chr1:71620200-71622800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:71620400-71621200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:71620600-71620800	ZNF genes & repeats	Esophagus	oesophagus
9	chr1:71620600-71621000	Weak transcription	Gastric	stomach
10	chr1:71621000-71621400	Enhancers	Gastric	stomach
11	chr1:71621200-71621400	Enhancers	Lung	lung
12	chr1:71621200-71621800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:71621200-71623600	Enhancers	Fetal Lung	lung
14	chr1:71621400-71621800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:71621400-71622200	Enhancers	Colonic Mucosa	Colon
16	chr1:71621400-71623800	Weak transcription	Lung	lung
17	chr1:71621800-71623600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:71621800-71623800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:71622000-71622800	Enhancers	Fetal Intestine Small	intestine
20	chr1:71622200-71622800	Weak transcription	Colonic Mucosa	Colon
21	chr1:71622400-71622800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:71622800-71623000	Enhancers	Colonic Mucosa	Colon
23	chr1:71622800-71623200	Enhancers	Fetal Intestine Large	intestine
24	chr1:71622800-71623200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:71622800-71623400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:71623200-71624000	Enhancers	Fetal Intestine Small	intestine
27	chr1:71623400-71623800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:71623600-71624200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:71623800-71624000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:71623800-71624000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr1:71623800-71624200	Enhancers	Lung	lung
32	chr1:71623800-71624200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:71624000-71624400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:71624200-71625200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:71624400-71625000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:71625200-71625400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:71625200-71625400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:71625200-71625400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:71625400-71637800	Weak transcription	Pancreas	Pancrea
40	chr1:71630200-71631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:71631000-71632200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:71631600-71632800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:71631600-71633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:71631800-71632800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:71631800-71632800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:71631800-71632800	Enhancers	Fetal Lung	lung
47	chr1:71631800-71633000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:71631800-71633000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:71632200-71632800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:71632200-71633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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