Variant report

Variant	nsv511501
Chromosome Location	chr12:105368694-105374137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:105368276-105368956	GM12878	blood:	n/a	n/a
2	ATF2	chr12:105368342-105368854	GM12878	blood:	n/a	n/a
3	BATF	chr12:105368373-105368802	GM12878	blood:	n/a	n/a
4	BATF	chr12:105368453-105368784	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:105368445-105368735	GM12878	blood:	n/a	n/a
6	BCL11A	chr12:105368354-105368777	GM12878	blood:	n/a	n/a
7	BCL3	chr12:105368529-105368781	GM12878	blood:	n/a	n/a
8	BCL3	chr12:105368433-105368763	GM12878	blood:	n/a	n/a
9	BCLAF1	chr12:105368367-105368796	GM12878	blood:	n/a	n/a
10	BCLAF1	chr12:105368296-105368960	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:105368464-105368900	GM12878	blood:	n/a	n/a
12	CEBPB	chr12:105368364-105368737	MCF-7	breast:	n/a	n/a
13	CEBPB	chr12:105368388-105369022	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:105369456-105369811	IMR90	lung:	n/a	n/a
15	CEBPB	chr12:105368386-105368728	A549	lung:	n/a	n/a
16	CEBPB	chr12:105368378-105368696	IMR90	lung:	n/a	n/a
17	CEBPB	chr12:105369368-105369855	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr12:105368380-105368712	HepG2	liver:	n/a	n/a
19	CEBPB	chr12:105368300-105368908	GM12878	blood:	n/a	n/a
20	CHD2	chr12:105368436-105368903	GM12878	blood:	n/a	n/a
21	CREB1	chr12:105368421-105368912	GM12878	blood:	n/a	n/a
22	CREB1	chr12:105368256-105368910	GM12878	blood:	n/a	n/a
23	CTCF	chr12:105370540-105370690	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr12:105370640-105370790	RPTEC	kidney:	n/a	n/a
25	CTCF	chr12:105370641-105370731	GM19240	blood:	n/a	n/a
26	CTCF	chr12:105370560-105370710	HMF	breast:	n/a	n/a
27	CTCF	chr12:105370552-105370784	K562	blood:	n/a	n/a
28	CTCF	chr12:105370588-105370772	ProgFib	skin:	n/a	n/a
29	CTCF	chr12:105370660-105370810	BJ	skin:	n/a	n/a
30	CTCF	chr12:105370500-105370650	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr12:105370645-105370684	GM19238	blood:	n/a	n/a
32	CTCF	chr12:105370600-105370750	NB4	blood:	n/a	n/a
33	CTCF	chr12:105370607-105370761	Gliobla	brain:	n/a	n/a
34	CTCF	chr12:105370520-105370670	K562	blood:	n/a	n/a
35	CTCF	chr12:105370540-105370690	HMF	breast:	n/a	n/a
36	CTCF	chr12:105370360-105370510	RPTEC	kidney:	n/a	n/a
37	CTCF	chr12:105370501-105370838	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr12:105371131-105371220	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr12:105370669-105370699	LNCaP	prostate:	n/a	n/a
40	CTCF	chr12:105370500-105370650	HCFaa	heart:	n/a	n/a
41	CTCF	chr12:105370560-105370710	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr12:105370579-105370773	Fibrobl	skin:	n/a	n/a
43	CTCF	chr12:105370660-105370810	GM12874	blood:	n/a	n/a
44	CTCF	chr12:105370568-105370720	GM12891	blood:	n/a	n/a
45	CTCF	chr12:105370676-105370707	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:105370680-105370830	WI-38	lung:	n/a	n/a
47	CTCF	chr12:105370627-105370721	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr12:105370584-105370785	A549	lung:	n/a	n/a
49	CTCF	chr12:105370680-105370830	SAEC	small airway:	n/a	n/a
50	CTCF	chr12:105370600-105370750	GM12873	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105367392..105369569-chr12:105378392..105380770,2	MCF-7	breast:
2	chr12:105350976..105355078-chr12:105366279..105369986,4	MCF-7	breast:
3	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:
4	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:
5	chr12:105371850..105375601-chr12:105378341..105381533,4	K562	blood:
6	chr12:105368926..105370513-chr12:105372160..105373896,2	MCF-7	breast:
7	chr12:105373554..105375601-chr12:105378341..105380639,2	K562	blood:
8	chr12:105372994..105375958-chr12:105380772..105382455,2	K562	blood:
9	chr12:105368926..105370513-chr12:105372160..105373896,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRT18P20	TF binding region
ENSG00000151131	chromatin interactions
ENSG00000136052	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11112269	chr12:105368694-105368695	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185996190	chr12:105368697-105368698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190722017	chr12:105368699-105368700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12308952	chr12:105368727-105368728	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs151116182	chr12:105368743-105368744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536517805	chr12:105368759-105368760	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182828716	chr12:105368820-105368821	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs542553266	chr12:105368826-105368827	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188297108	chr12:105368844-105368845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142005320	chr12:105368845-105368846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192142042	chr12:105368891-105368892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182812469	chr12:105368893-105368894	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554576033	chr12:105368894-105368895	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs36094846	chr12:105368940-105368941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562449829	chr12:105368988-105368989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531598662	chr12:105369055-105369056	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550718063	chr12:105369056-105369057	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375326301	chr12:105369057-105369058	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368251145	chr12:105369058-105369059	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199770175	chr12:105369059-105369060	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371698867	chr12:105369060-105369061	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs71069781	chr12:105369074-105369075	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11112270	chr12:105369082-105369083	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11112271	chr12:105369089-105369090	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561316357	chr12:105369138-105369139	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560291052	chr12:105369192-105369193	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572965924	chr12:105369221-105369222	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540071051	chr12:105369235-105369236	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs55673511	chr12:105369274-105369275	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11610698	chr12:105369291-105369292	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369431057	chr12:105369317-105369318	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187716156	chr12:105369351-105369352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539239682	chr12:105369406-105369407	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs77844215	chr12:105369525-105369526	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372721623	chr12:105369554-105369555	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147803066	chr12:105369561-105369562	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552764327	chr12:105369621-105369622	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569587811	chr12:105369690-105369691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192410045	chr12:105369790-105369791	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77224419	chr12:105369813-105369814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs202049975	chr12:105369945-105369946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7959207	chr12:105369949-105369950	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553547685	chr12:105369967-105369968	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533696202	chr12:105369968-105369969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553452139	chr12:105369987-105369988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544226507	chr12:105369994-105369995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184778541	chr12:105370021-105370022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188814311	chr12:105370070-105370071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576289308	chr12:105370097-105370098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192142791	chr12:105370203-105370204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105368000-105368800	Flanking Active TSS	NHEK	skin
2	chr12:105368000-105369000	Enhancers	Stomach Mucosa	stomach
3	chr12:105368000-105370800	Enhancers	HMEC	breast
4	chr12:105368000-105371800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:105368000-105371800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:105368200-105368800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:105368200-105369000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:105368200-105369000	Enhancers	Adipose Nuclei	Adipose
9	chr12:105368200-105369000	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:105368200-105369000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:105368200-105370000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:105368200-105370200	Enhancers	Hela-S3	cervix
13	chr12:105368200-105372000	Enhancers	Primary B cells from cord blood	blood
14	chr12:105368400-105369800	Enhancers	Osteobl	bone
15	chr12:105368400-105370200	Enhancers	NHDF-Ad	bronchial
16	chr12:105368400-105370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105368400-105370800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:105368600-105368800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:105368600-105368800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105368600-105368800	Enhancers	NHLF	lung
21	chr12:105368600-105370000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:105368600-105370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:105368600-105370200	Enhancers	HSMM	muscle
24	chr12:105368600-105370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:105368600-105370600	Weak transcription	Placenta	Placenta
26	chr12:105368800-105369400	Weak transcription	NHLF	lung
27	chr12:105368800-105369600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:105368800-105369800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:105368800-105370400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:105368800-105370400	Enhancers	NHEK	skin
31	chr12:105369000-105370000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:105369000-105371200	Enhancers	GM12878-XiMat	blood
33	chr12:105369000-105371600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:105369400-105370000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:105369600-105369800	Enhancers	NHLF	lung
36	chr12:105369600-105370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:105369800-105370200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:105370600-105371000	Enhancers	Placenta	Placenta
39	chr12:105370800-105371600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:105370800-105371600	Enhancers	Spleen	Spleen
41	chr12:105371800-105373400	Weak transcription	Primary B cells from peripheral blood	blood

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