Variant report

Variant	nsv899484
Chromosome Location	chr12:104118587-104139034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:104125323-104125648	GM12878	blood:	n/a	n/a
2	BATF	chr12:104125409-104125605	GM12878	blood:	n/a	n/a
3	BCL3	chr12:104121397-104121783	GM12878	blood:	n/a	n/a
4	BCL3	chr12:104121485-104121647	GM12878	blood:	n/a	n/a
5	BRCA1	chr12:104137577-104137581	HepG2	liver:	n/a	n/a
6	CBX3	chr12:104124942-104125268	K562	blood:	n/a	n/a
7	CEBPB	chr12:104122211-104122516	A549	lung:	n/a	chr12:104122367-104122378
8	CEBPB	chr12:104122353-104122441	H1-hESC	embryonic stem cell:	n/a	chr12:104122367-104122378
9	CEBPB	chr12:104122247-104122507	K562	blood:	n/a	chr12:104122367-104122378
10	CEBPB	chr12:104122189-104122557	HepG2	liver:	n/a	chr12:104122367-104122378
11	CEBPB	chr12:104122191-104122543	IMR90	lung:	n/a	chr12:104122367-104122378
12	CEBPB	chr12:104137722-104137879	K562	blood:	n/a	n/a
13	CEBPB	chr12:104122201-104122469	Hela-S3	cervix:	n/a	chr12:104122367-104122378
14	CTCF	chr12:104119330-104119389	A549	lung:	n/a	n/a
15	CTCF	chr12:104119303-104119418	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:104119308-104119378	Fibrobl	skin:	n/a	n/a
17	CTCF	chr12:104128160-104128310	HRE	kidney:	n/a	n/a
18	CTCF	chr12:104131351-104131454	GM10248	blood:	n/a	n/a
19	CTCF	chr12:104119279-104119420	GM19239	blood:	n/a	n/a
20	FOS	chr12:104121583-104121659	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA2	chr12:104137603-104137872	K562	blood:	n/a	n/a
22	JUN	chr12:104128672-104128948	HepG2	liver:	n/a	chr12:104128807-104128820 chr12:104128837-104128850
23	JUND	chr12:104128663-104128989	HepG2	liver:	n/a	n/a
24	MAX	chr12:104119259-104119489	A549	lung:	n/a	n/a
25	MAX	chr12:104119262-104119484	NB4	blood:	n/a	n/a
26	MAX	chr12:104119201-104119471	K562	blood:	n/a	n/a
27	MAX	chr12:104119255-104119399	HepG2	liver:	n/a	n/a
28	MAX	chr12:104119239-104119439	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr12:104119306-104119469	K562	blood:	n/a	n/a
30	MAZ	chr12:104133696-104133717	HepG2	liver:	n/a	n/a
31	MYC	chr12:104119267-104119436	MCF-7	breast:	n/a	n/a
32	MYC	chr12:104119310-104119443	MCF-7	breast:	n/a	n/a
33	MYC	chr12:104119261-104119472	MCF-7	breast:	n/a	n/a
34	MYC	chr12:104136267-104136272	MCF-7	breast:	n/a	n/a
35	MYC	chr12:104136275-104136445	MCF-7	breast:	n/a	n/a
36	MYC	chr12:104119261-104119455	MCF-7	breast:	n/a	n/a
37	NFATC1	chr12:104119238-104119506	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:104137634-104137784	K562	blood:	n/a	n/a
39	POLR2A	chr12:104131236-104131436	K562	blood:	n/a	n/a
40	POLR2A	chr12:104119235-104119444	MCF-7	breast:	n/a	n/a
41	POLR2A	chr12:104136369-104136620	HCT-116	colon:	n/a	n/a
42	POLR2A	chr12:104136278-104136359	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:104135469-104135590	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:104119209-104119492	A549	lung:	n/a	n/a
45	POLR2A	chr12:104119255-104119469	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:104119308-104119464	Gliobla	brain:	n/a	n/a
47	RCOR1	chr12:104137555-104137749	K562	blood:	n/a	n/a
48	SPI1	chr12:104122268-104122641	HL-60	blood:	n/a	n/a
49	SPI1	chr12:104122347-104122541	K562	blood:	n/a	n/a
50	STAT3	chr12:104122240-104122355	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104112132..104115001-chr12:104117740..104119826,2	K562	blood:
2	chr12:104131640..104133460-chr12:104142100..104144615,2	K562	blood:
3	chr12:104126083..104127823-chr12:104129253..104131944,2	K562	blood:
4	chr12:104128241..104130888-chr12:104131454..104134475,3	K562	blood:
5	chr12:104134942..104137078-chr12:104139812..104142244,2	MCF-7	breast:
6	chr12:104102336..104105265-chr12:104119605..104121308,2	MCF-7	breast:
7	chr12:104026123..104026928-chr12:104138981..104139804,2	MCF-7	breast:
8	chr12:104136425..104139178-chr12:104152624..104154639,2	K562	blood:
9	chr12:104126083..104127823-chr12:104129253..104131944,2	K562	blood:
10	chr12:104128241..104130888-chr12:104131454..104134475,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238914	TF binding region
ENSG00000238914	chromatin interactions
ENSG00000136011	chromatin interactions

Extended variants
information (count: 881 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2270485	chr12:104118587-104118588	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17034422	chr12:104118595-104118596	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559448944	chr12:104118647-104118648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147235267	chr12:104118669-104118670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552076961	chr12:104118670-104118671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114615262	chr12:104118676-104118677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2270486	chr12:104118687-104118688	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550566117	chr12:104118697-104118698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531641821	chr12:104118736-104118737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200367145	chr12:104118761-104118762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139082297	chr12:104118762-104118763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149611507	chr12:104118771-104118772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371270724	chr12:104118779-104118780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567096688	chr12:104118814-104118815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147307613	chr12:104118855-104118856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140998727	chr12:104118856-104118857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144900279	chr12:104118858-104118859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374669815	chr12:104118865-104118866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373719274	chr12:104118878-104118879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375220916	chr12:104118879-104118880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76843159	chr12:104118882-104118883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143107229	chr12:104118903-104118904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182568630	chr12:104118920-104118921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537862710	chr12:104118931-104118932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554500894	chr12:104118973-104118974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546174767	chr12:104118995-104118996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79815488	chr12:104119045-104119046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144748364	chr12:104119088-104119089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148556152	chr12:104119121-104119122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79293963	chr12:104119126-104119127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568078787	chr12:104119158-104119159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558707692	chr12:104119179-104119180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575371537	chr12:104119221-104119222	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544231025	chr12:104119248-104119249	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535078292	chr12:104119275-104119276	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368602961	chr12:104119291-104119292	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560912086	chr12:104119316-104119317	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142906254	chr12:104119324-104119325	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61937835	chr12:104119334-104119335	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs565625872	chr12:104119337-104119338	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368650749	chr12:104119338-104119339	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566683733	chr12:104119343-104119344	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189351099	chr12:104119344-104119345	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558725635	chr12:104119362-104119363	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531645045	chr12:104119371-104119372	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs202034193	chr12:104119382-104119383	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528081361	chr12:104119387-104119388	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73189898	chr12:104119389-104119390	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71834744	chr12:104119390-104119391	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs397933827	chr12:104119391-104119392	Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104113400-104121000	Weak transcription	Spleen	Spleen
2	chr12:104118400-104124800	Weak transcription	HSMMtube	muscle
3	chr12:104119200-104119400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:104119200-104119400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:104121000-104123000	Strong transcription	Spleen	Spleen
6	chr12:104122200-104122800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104123000-104124600	Weak transcription	Spleen	Spleen
8	chr12:104124600-104125200	ZNF genes & repeats	Spleen	Spleen
9	chr12:104124800-104125000	ZNF genes & repeats	HSMMtube	muscle
10	chr12:104125000-104125200	ZNF genes & repeats	Aorta	Aorta
11	chr12:104125200-104126200	Weak transcription	Spleen	Spleen
12	chr12:104125200-104138800	Weak transcription	Aorta	Aorta
13	chr12:104126200-104128400	Strong transcription	Spleen	Spleen
14	chr12:104128400-104138800	Weak transcription	Spleen	Spleen
15	chr12:104129600-104131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:104130200-104130600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104130200-104130800	Enhancers	NHEK	skin
18	chr12:104130600-104135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104130800-104135800	Weak transcription	NHEK	skin
20	chr12:104131000-104136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:104131800-104132000	Enhancers	A549	lung
22	chr12:104132600-104132800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:104132800-104136200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:104133000-104136000	Weak transcription	A549	lung
25	chr12:104133400-104133800	Enhancers	Fetal Intestine Large	intestine
26	chr12:104133800-104135800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:104135400-104136200	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:104135600-104136400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:104135800-104136000	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:104135800-104136000	Enhancers	NHEK	skin
31	chr12:104135800-104136200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:104135800-104136200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104135800-104136200	Enhancers	HMEC	breast
34	chr12:104135800-104136200	Enhancers	NHDF-Ad	bronchial
35	chr12:104135800-104136400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:104135800-104136600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:104135800-104136800	Enhancers	Fetal Heart	heart
38	chr12:104135800-104137200	Enhancers	Fetal Intestine Large	intestine
39	chr12:104136000-104136200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:104136000-104136200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:104136000-104136200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:104136000-104136200	Enhancers	Brain Angular Gyrus	brain
43	chr12:104136000-104136200	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:104136000-104136200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:104136000-104136200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr12:104136000-104136200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:104136000-104136200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:104136000-104136400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:104136000-104136400	Enhancers	Liver	Liver
50	chr12:104136000-104136400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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