Variant report

Variant	nsv975533
Chromosome Location	chr12:120808952-120809553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120808551-120809220	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr12:120808354-120809067	H1-hESC	embryonic stem cell:	n/a	chr12:120808716-120808727 chr12:120808511-120808523 chr12:120808511-120808523 chr12:120808706-120808720 chr12:120808538-120808552

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120809271-120809321	HCPEpiC	choroid plexus:	n/a
2	chr12:120809271-120809321	AG04450	lung:	fetal
3	chr12:120809271-120809321	HEK293	kidney:	embryo
4	chr12:120809271-120809321	PANC-1	pancreas:	n/a
5	chr12:120809271-120809321	NT2-D1	testis:	n/a
6	chr12:120809271-120809321	A549	lung:	n/a
7	chr12:120809271-120809321	U87	brain:	n/a
8	chr12:120809271-120809321	Caco-2	colon:	n/a
9	chr12:120809271-120809321	ovcar-3	ovarian:	n/a
10	chr12:120809271-120809321	GM19239	blood:	n/a
11	chr12:120809271-120809321	ProgFib	skin:	n/a
12	chr12:120809271-120809321	BE2_C	brain:	n/a
13	chr12:120809271-120809321	AG10803	skin:	n/a
14	chr12:120809271-120809321	HL-60	blood:	n/a
15	chr12:120809271-120809321	BJ	skin:	n/a
16	chr12:120809271-120809321	GM12891	blood:	n/a
17	chr12:120809271-120809321	SAEC	small airway:	n/a
18	chr12:120809271-120809321	T-47D	breast:	n/a
19	chr12:120809271-120809321	HNPCEpiC	eye:	n/a
20	chr12:120809271-120809321	AG09319	gingival:	n/a
21	chr12:120809271-120809321	HCT-116	colon:	n/a
22	chr12:120809271-120809321	AG09309	skin:	n/a
23	chr12:120809271-120809321	ECC-1	luminal epithelium:	n/a
24	chr12:120809271-120809321	MCF10A-Er-Src	breast:	n/a
25	chr12:120809271-120809321	PrEC	prostate:	n/a
26	chr12:120809271-120809321	NH-A	brain:	n/a
27	chr12:120809271-120809321	PFSK-1	brain:	n/a
28	chr12:120809271-120809321	GM12892	blood:	n/a
29	chr12:120809271-120809321	Hepatocyte	liver:	n/a
30	chr12:120809271-120809321	K562	blood:	n/a
31	chr12:120809271-120809321	HIPEpiC	eye:	n/a
32	chr12:120809271-120809321	HAEpiC	amniotic membrane:	n/a
33	chr12:120809271-120809321	RPTEC	kidney:	n/a
34	chr12:120809271-120809321	IMR90	lung:	fetal
35	chr12:120809271-120809321	HCM	heart:	n/a
36	chr12:120809271-120809321	Jurkat	blood:	n/a
37	chr12:120809271-120809321	GM06990	blood:	n/a
38	chr12:120809271-120809321	HRCEpiC	kidney:	n/a
39	chr12:120809271-120809321	CMK	blood:	n/a
40	chr12:120809271-120809321	AoSMC	blood vessel:	n/a
41	chr12:120809271-120809321	HRE	kidney:	n/a
42	chr12:120809271-120809321	HMEC	breast:	n/a
43	chr12:120809271-120809321	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:120809271-120809321	MCF-7	breast:	n/a
45	chr12:120809271-120809321	SK-N-SH_RA	brain:	n/a
46	chr12:120809271-120809321	LNCaP	prostate:	n/a
47	chr12:120809271-120809321	SK-N-MC	brain:	n/a
48	chr12:120809271-120809321	HUVEC	blood vessel:	n/a
49	chr12:120809271-120809321	HCF	heart:	n/a
50	chr12:120809271-120809321	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167
2	lnc-SIRT4-5	chr12:120809191-120809438	NONHSAT031169

No data

Variant related genes	Relation type
MSI1	TF binding region
RPS27P25	TF binding region
MSI1	CpG island
RPS27P25	CpG island
ENSG00000111775	chromatin interactions
ENSG00000111780	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570010277	chr12:120808977-120808978	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs76348557	chr12:120808989-120808990	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs112465887	chr12:120809011-120809012	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs572600659	chr12:120809019-120809020	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs576228859	chr12:120809023-120809024	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs541999452	chr12:120809073-120809074	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs79955974	chr12:120809129-120809130	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs575022270	chr12:120809130-120809131	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs533143768	chr12:120809138-120809139	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs540053037	chr12:120809173-120809174	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs185064088	chr12:120809184-120809185	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs3742038	chr12:120809191-120809192	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs190906603	chr12:120809200-120809201	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs546087837	chr12:120809227-120809228	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs559236407	chr12:120809254-120809255	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs560170240	chr12:120809269-120809270	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs528312396	chr12:120809321-120809322	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs527494664	chr12:120809323-120809324	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs183095372	chr12:120809342-120809343	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs561422989	chr12:120809388-120809389	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs530565899	chr12:120809393-120809394	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs550151620	chr12:120809406-120809407	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs570119634	chr12:120809464-120809465	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538914304	chr12:120809474-120809475	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556938384	chr12:120809496-120809497	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112962110	chr12:120809497-120809498	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552853592	chr12:120809529-120809530	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566104335	chr12:120809552-120809553	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120807200-120809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:120807400-120809000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr12:120807800-120809200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr12:120807800-120809200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr12:120807800-120809200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:120807800-120814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:120808200-120809000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:120808200-120809200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120808200-120809400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:120808200-120809800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:120808200-120809800	Weak transcription	Right Atrium	heart
12	chr12:120808400-120809000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
13	chr12:120808400-120809200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:120808600-120809600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:120808600-120813800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:120808800-120809000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr12:120808800-120809000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr12:120808800-120809000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr12:120808800-120809400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr12:120808800-120809400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120808800-120809400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr12:120808800-120809800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr12:120809000-120809200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr12:120809000-120809200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:120809000-120809200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr12:120809000-120809200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr12:120809000-120809400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
28	chr12:120809000-120809400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr12:120809200-120809400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr12:120809200-120809600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr12:120809200-120809800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr12:120809200-120809800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr12:120809200-120813600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:120809200-120813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120809400-120814000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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