Variant report

Variant	rs10845181
Chromosome Location	chr12:10762757-10762758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
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	MYBL2	chr12:10762717-10763143	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:10759407-10766713	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10753471..10755289-chr12:10762745..10764723,2	MCF-7	breast:
2	chr12:10761406..10764167-chr12:10764893..10767913,5	MCF-7	breast:
3	chr12:10713530..10716257-chr12:10762530..10764410,2	MCF-7	breast:
4	chr12:10754715..10757719-chr12:10762132..10766161,5	MCF-7	breast:
5	chr12:10528733..10530247-chr12:10762165..10764402,2	K562	blood:
6	chr12:10760650..10763319-chr12:10825265..10828061,2	K562	blood:
7	chr12:10752173..10753763-chr12:10760040..10762966,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000256667	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1026442	0.82[JPT][hapmap]
rs10431297	0.86[JPT][hapmap]
rs1054396	0.84[ASW][hapmap];0.88[CEU][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1073305	0.86[JPT][hapmap]
rs10743911	0.82[JPT][hapmap]
rs10772334	0.82[JPT][hapmap]
rs10772340	0.86[JPT][hapmap]
rs10772343	0.85[JPT][hapmap]
rs10772347	0.86[JPT][hapmap]
rs1078437	0.93[JPT][hapmap]
rs10845179	0.89[CHB][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10845180	0.82[JPT][hapmap]
rs10845183	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10845185	0.82[JPT][hapmap]
rs10845192	0.86[JPT][hapmap]
rs10845194	0.85[JPT][hapmap]
rs10845195	0.86[JPT][hapmap]
rs10845197	0.86[JPT][hapmap]
rs10845198	0.86[JPT][hapmap]
rs11053877	0.82[JPT][hapmap]
rs11053880	0.80[JPT][hapmap]
rs11053881	0.82[JPT][hapmap]
rs11053882	0.82[JPT][hapmap]
rs12306757	0.82[JPT][hapmap]
rs12306815	0.82[JPT][hapmap]
rs12316690	0.80[JPT][hapmap]
rs12811247	0.88[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1870194	0.82[JPT][hapmap]
rs2125091	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2168749	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2219382	0.82[JPT][hapmap]
rs2290718	0.82[JPT][hapmap]
rs2305853	0.88[CEU][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2418087	0.86[JPT][hapmap]
rs2418088	0.86[JPT][hapmap]
rs2900467	0.86[GIH][hapmap];0.93[JPT][hapmap]
rs2900513	0.86[JPT][hapmap]
rs3759264	0.82[JPT][hapmap]
rs3782674	0.81[JPT][hapmap]
rs6488316	0.86[JPT][hapmap]
rs7312261	0.82[JPT][hapmap]
rs7313620	0.86[JPT][hapmap]
rs7350557	0.86[JPT][hapmap]
rs7350597	0.86[JPT][hapmap]
rs7968284	0.86[JPT][hapmap]
rs7968819	0.81[AMR][1000 genomes]
rs7971142	0.86[JPT][hapmap]
rs897880	0.82[JPT][hapmap]
rs897882	0.82[JPT][hapmap]
rs9988929	0.85[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv516351	chr12:10759489-10764045	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10845181	SLC2A14	cis	parietal	SCAN
rs10845181	MAGOHB	cis	cerebellum	SCAN
rs10845181	NOP2	cis	cerebellum	SCAN
rs10845181	TPI1	cis	parietal	SCAN
rs10845181	KLRA1	cis	cerebellum	SCAN
rs10845181	CLEC4E	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:10730600-10764800	Weak transcription	Lung	lung
3	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
5	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
7	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
8	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:10735400-10764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:10738800-10764000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
13	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
14	chr12:10743400-10765400	Weak transcription	Gastric	stomach
15	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
17	chr12:10744200-10764000	Weak transcription	Ovary	ovary
18	chr12:10744200-10764600	Weak transcription	HSMMtube	muscle
19	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
20	chr12:10747000-10764800	Weak transcription	Right Ventricle	heart
21	chr12:10748400-10764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:10749400-10764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:10751800-10764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:10752200-10764800	Weak transcription	Colonic Mucosa	Colon
25	chr12:10752400-10764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:10753200-10762800	Strong transcription	Primary B cells from cord blood	blood
27	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:10754000-10764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:10755000-10763600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:10755200-10764600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:10755400-10763000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:10755800-10764800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:10756200-10763000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:10756200-10763000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:10756200-10763400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:10756400-10762800	Strong transcription	Liver	Liver
37	chr12:10756400-10763000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:10756400-10764800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:10756600-10762800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:10756600-10763000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:10756600-10764600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:10757000-10762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:10757000-10763000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:10757000-10763200	Strong transcription	Primary T cells from cord blood	blood
45	chr12:10757000-10763600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:10757200-10763000	Strong transcription	NH-A	brain
47	chr12:10757200-10763000	Strong transcription	NHDF-Ad	bronchial
48	chr12:10757200-10764000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:10757200-10764200	Strong transcription	Fetal Thymus	thymus
50	chr12:10757400-10763200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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