Variant report

Variant	nsv559540
Chromosome Location	chr12:82644162-82715210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:82708477-82708721	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:82708481-82708643	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:82708421-82708724	HepG2	liver:	n/a	n/a
4	CTCF	chr12:82679315-82679373	NHEK	skin:	n/a	n/a
5	CTCF	chr12:82658320-82658470	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr12:82679200-82679350	HepG2	liver:	n/a	n/a
7	CTCF	chr12:82679318-82679343	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:82658260-82658410	AG09319	gingival:	n/a	n/a
9	CTCF	chr12:82708331-82708490	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:82644120-82644270	HL-60	blood:	n/a	n/a
11	CTCF	chr12:82675118-82675186	GM20000	blood:	n/a	n/a
12	CTCF	chr12:82686240-82686390	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr12:82679340-82679490	HRE	kidney:	n/a	n/a
14	CTCF	chr12:82679280-82679430	HepG2	liver:	n/a	n/a
15	CTCF	chr12:82658320-82658470	RPTEC	kidney:	n/a	n/a
16	CTCF	chr12:82659340-82659490	GM12871	blood:	n/a	n/a
17	CTCF	chr12:82679220-82679370	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:82679240-82679390	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:82708320-82708470	MCF-7	breast:	n/a	n/a
20	CTCF	chr12:82679260-82679410	HEK293	kidney:	n/a	n/a
21	CTCF	chr12:82679240-82679390	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr12:82679304-82679378	Gliobla	brain:	n/a	n/a
23	CTCF	chr12:82658300-82658450	AG09319	gingival:	n/a	n/a
24	CTCF	chr12:82708353-82708389	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:82679284-82679370	HepG2	liver:	n/a	n/a
26	CTCF	chr12:82708300-82708450	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:82679260-82679445	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:82675408-82675428	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr12:82679231-82679443	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:82679257-82679439	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:82679290-82679380	A549	lung:	n/a	n/a
32	CTCF	chr12:82658377-82658458	Medullo	brain:	n/a	n/a
33	CTCF	chr12:82679293-82679378	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr12:82679347-82679401	Medullo	brain:	n/a	n/a
35	CTCF	chr12:82679251-82679447	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:82679341-82679345	Medullo	brain:	n/a	n/a
37	CTCF	chr12:82679260-82679451	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:82708361-82708411	MCF-7	breast:	n/a	n/a
39	E2F4	chr12:82652377-82652723	MCF10A-Er-Src	breast:	n/a	n/a
40	ELF1	chr12:82708397-82708680	HepG2	liver:	n/a	n/a
41	FAM48A	chr12:82709661-82709765	GM12878	blood:	n/a	n/a
42	FOS	chr12:82703052-82703385	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:82708448-82708707	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr12:82660054-82660129	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:82708553-82708653	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:82703050-82703385	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr12:82703114-82703381	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:82708421-82708694	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr12:82708421-82708685	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr12:82703053-82703364	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82650082..82652176-chr12:82749442..82751798,2	K562	blood:
2	chr12:82714442..82716040-chr12:82726087..82727743,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221260	TF binding region
ENSG00000133773	chromatin interactions

Extended variants
information (count: 525 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10778881	chr12:82650083-82650084	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530453103	chr12:82650106-82650107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201112567	chr12:82650165-82650166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551841880	chr12:82650172-82650173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139031881	chr12:82650204-82650205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554501977	chr12:82650209-82650210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528661371	chr12:82650274-82650275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546834800	chr12:82650287-82650288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572803533	chr12:82650342-82650343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568651582	chr12:82650355-82650356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187521668	chr12:82650365-82650366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533753668	chr12:82650491-82650492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142333802	chr12:82650508-82650509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143048428	chr12:82650517-82650518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543486111	chr12:82650544-82650545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79953300	chr12:82650552-82650553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148219368	chr12:82650579-82650580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192607137	chr12:82650640-82650641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367995269	chr12:82650656-82650657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552858027	chr12:82650720-82650721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574597586	chr12:82650740-82650741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2401062	chr12:82650741-82650742	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563636875	chr12:82650791-82650792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76118729	chr12:82650852-82650853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545442404	chr12:82650856-82650857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576777022	chr12:82650891-82650892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563744438	chr12:82650910-82650911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528138784	chr12:82650928-82650929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150760281	chr12:82650935-82650936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562644982	chr12:82650974-82650975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374286547	chr12:82651006-82651007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10778882	chr12:82651031-82651032	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113144376	chr12:82651061-82651062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184232776	chr12:82651065-82651066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569616360	chr12:82651067-82651068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549855884	chr12:82651087-82651088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560002150	chr12:82651097-82651098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533670312	chr12:82651109-82651110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143700683	chr12:82651141-82651142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566887615	chr12:82651152-82651153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75600661	chr12:82651162-82651163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555858324	chr12:82651215-82651216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10778883	chr12:82651287-82651288	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535681936	chr12:82651311-82651312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188517148	chr12:82651331-82651332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140654347	chr12:82651341-82651342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192161919	chr12:82651381-82651382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557299675	chr12:82651491-82651492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184517371	chr12:82651541-82651542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149771506	chr12:82651606-82651607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82670800-82671200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:82670800-82672200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:82671200-82671400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:82671200-82671400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:82671200-82671600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:82671400-82671800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:82671400-82671800	Active TSS	Brain Anterior Caudate	brain
8	chr12:82671400-82671800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:82671400-82672000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:82671400-82672000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:82671600-82672400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:82671800-82672000	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr12:82671800-82672400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:82672000-82672200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:82672000-82672400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:82672600-82673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:82679200-82679600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:82679400-82680000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:82690800-82691400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:82691200-82691400	Enhancers	Fetal Heart	heart
21	chr12:82691800-82692800	Weak transcription	Fetal Heart	heart
22	chr12:82692800-82694800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:82692800-82695000	Enhancers	Fetal Heart	heart
24	chr12:82693000-82694200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:82693000-82694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:82693000-82694800	Enhancers	NH-A	brain
27	chr12:82693400-82693600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:82693400-82694800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:82693600-82694400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:82693600-82694800	Enhancers	Brain Angular Gyrus	brain
31	chr12:82693800-82694400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:82693800-82695000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:82693800-82695000	Enhancers	Brain Germinal Matrix	brain
34	chr12:82694200-82694400	Active TSS	Brain Hippocampus Middle	brain
35	chr12:82694200-82694600	Enhancers	Fetal Brain Female	brain
36	chr12:82694200-82694600	Active TSS	Right Atrium	heart
37	chr12:82694400-82694800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr12:82694400-82694800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr12:82694400-82695000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:82694400-82695000	Enhancers	Fetal Lung	lung
41	chr12:82694400-82695200	Enhancers	Left Ventricle	heart
42	chr12:82694600-82694800	Flanking Active TSS	Right Atrium	heart
43	chr12:82694600-82695000	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:82694800-82695000	Enhancers	Right Atrium	heart
45	chr12:82695200-82695800	Weak transcription	Left Ventricle	heart
46	chr12:82695800-82696000	Enhancers	Left Ventricle	heart
47	chr12:82707600-82708000	Enhancers	HepG2	liver
48	chr12:82708000-82708200	Enhancers	Pancreas	Pancrea
49	chr12:82708000-82708800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:82708200-82708600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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