Variant report

Variant	nsv8937
Chromosome Location	chr12:30457162-30462498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:30461079-30461749	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr12:30461222-30461696	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr12:30457560-30457710	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr12:30457560-30457710	HCM	heart:	n/a	n/a
5	CTCF	chr12:30457640-30457790	HEK293	kidney:	n/a	n/a
6	CTCF	chr12:30457600-30457750	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr12:30457660-30457810	Caco-2	colon:	n/a	n/a
8	CTCF	chr12:30457640-30457790	HMF	breast:	n/a	n/a
9	CTCF	chr12:30457660-30457810	BE2_C	brain:	n/a	n/a
10	CTCF	chr12:30457580-30457730	HCPEpiC	choroid plexus:	n/a	n/a
11	EP300	chr12:30460764-30461936	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr12:30460972-30461797	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr12:30461181-30461698	ECC-1	luminal epithelium:	n/a	n/a
14	ESR1	chr12:30461000-30461677	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr12:30461076-30461718	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr12:30460979-30461735	ECC-1	luminal epithelium:	n/a	n/a
17	FOXM1	chr12:30460799-30461724	ECC-1	luminal epithelium:	n/a	n/a
18	FOXM1	chr12:30460770-30461888	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr12:30461011-30461934	ECC-1	luminal epithelium:	n/a	n/a
20	NFIC	chr12:30460879-30461740	ECC-1	luminal epithelium:	n/a	n/a
21	NFIC	chr12:30460884-30461881	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr12:30462300-30462304	MCF10A-Er-Src	breast:	n/a	n/a
23	RAD21	chr12:30461211-30461868	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr12:30460853-30462003	ECC-1	luminal epithelium:	n/a	n/a
25	TCF12	chr12:30460935-30461761	ECC-1	luminal epithelium:	n/a	n/a
26	TEAD4	chr12:30460968-30461801	ECC-1	luminal epithelium:	n/a	n/a
27	TEAD4	chr12:30460927-30461752	ECC-1	luminal epithelium:	n/a	n/a
28	USF1	chr12:30461013-30461616	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:30448261..30450995-chr12:30458439..30460562,2	K562	blood:
2	chr12:30457702..30459650-chr12:30461692..30463708,2	K562	blood:
3	chr12:30130967..30132688-chr12:30459870..30462012,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP356	TF binding region
ENSG00000257756	chromatin interactions
ENSG00000251781	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs1652191	chr12:30458405-30458406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561202319	chr12:30458428-30458429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374800977	chr12:30458431-30458432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531854729	chr12:30458438-30458439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34300913	chr12:30458449-30458450	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375600999	chr12:30458474-30458475	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571621954	chr12:30458485-30458486	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35649717	chr12:30458487-30458488	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548345085	chr12:30458493-30458494	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138906999	chr12:30458510-30458511	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547709084	chr12:30458526-30458527	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79934887	chr12:30458528-30458529	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566017873	chr12:30458540-30458541	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs36122372	chr12:30458576-30458577	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74764800	chr12:30458600-30458601	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11837692	chr12:30458619-30458620	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145168563	chr12:30458697-30458698	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537162599	chr12:30458724-30458725	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558220471	chr12:30458766-30458767	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2700026	chr12:30458797-30458798	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7965161	chr12:30458816-30458817	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191321489	chr12:30458817-30458818	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572433205	chr12:30458818-30458819	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542784418	chr12:30458823-30458824	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571135893	chr12:30458850-30458851	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561546900	chr12:30458904-30458905	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113359077	chr12:30458947-30458948	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538710531	chr12:30458960-30458961	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150533839	chr12:30458968-30458969	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1652190	chr12:30458981-30458982	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547841950	chr12:30459045-30459046	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115487828	chr12:30459105-30459106	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371955256	chr12:30459120-30459121	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs16906077	chr12:30459133-30459134	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139487548	chr12:30459134-30459135	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149668160	chr12:30459153-30459154	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536897579	chr12:30459205-30459206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552241976	chr12:30459221-30459222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570249265	chr12:30459293-30459294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182592301	chr12:30459317-30459318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552568900	chr12:30459319-30459320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368842680	chr12:30459337-30459338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12424722	chr12:30459339-30459340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536958379	chr12:30459342-30459343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370332430	chr12:30459362-30459363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75931206	chr12:30459366-30459367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543694416	chr12:30459394-30459395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7304070	chr12:30459429-30459430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs80057583	chr12:30459450-30459451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7303893	chr12:30459506-30459507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30458400-30460800	Enhancers	Placenta	Placenta
2	chr12:30459200-30461600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:30460600-30461400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:30460600-30461800	Enhancers	NHEK	skin
5	chr12:30460800-30461200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:30461000-30461400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:30461000-30461400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:30461600-30461800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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