Variant report

Variant	rs74060455
Chromosome Location	chr12:10761846-10761847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10759407-10766713	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10760446..10762203-chr12:11323888..11325802,2	K562	blood:
2	chr12:10761406..10764167-chr12:10764893..10767913,5	MCF-7	breast:
3	chr12:10758501..10762466-chr12:10825549..10828463,4	MCF-7	breast:
4	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
5	chr12:10760650..10763319-chr12:10825265..10828061,2	K562	blood:
6	chr12:10752173..10753763-chr12:10760040..10762966,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000256667	Chromatin interaction
ENSG00000212127	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000256537	Chromatin interaction
ENSG00000111196	Chromatin interaction
ENSG00000256712	Chromatin interaction
ENSG00000111215	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11053888	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11053890	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11053891	0.80[AMR][1000 genomes]
rs11836109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297620	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12299672	0.90[AMR][1000 genomes]
rs12302213	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12304304	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12311784	0.80[AMR][1000 genomes]
rs12315090	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12319401	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12321785	0.80[AMR][1000 genomes]
rs12322680	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16921859	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2198964	0.90[AMR][1000 genomes]
rs55706835	0.83[AMR][1000 genomes]
rs55785135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56801111	0.91[AMR][1000 genomes]
rs57025730	0.91[AMR][1000 genomes]
rs57035205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58067632	0.91[AMR][1000 genomes]
rs58677311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59613394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59816952	0.83[AMR][1000 genomes]
rs60124900	0.83[AMR][1000 genomes]
rs60400937	0.91[AMR][1000 genomes]
rs60461379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61143136	0.83[AMR][1000 genomes]
rs61473048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488311	0.83[AMR][1000 genomes]
rs7303086	0.83[AMR][1000 genomes]
rs7303851	0.83[AMR][1000 genomes]
rs7308730	0.83[AMR][1000 genomes]
rs7316572	0.83[AMR][1000 genomes]
rs73252005	0.91[AMR][1000 genomes]
rs73254038	0.91[AMR][1000 genomes]
rs73266180	0.83[AMR][1000 genomes]
rs73266182	0.83[AMR][1000 genomes]
rs73266183	0.83[AMR][1000 genomes]
rs74060473	0.80[AMR][1000 genomes]
rs7962734	0.83[AMR][1000 genomes]
rs7968001	0.80[AMR][1000 genomes]
rs7972993	0.83[AMR][1000 genomes]
rs7978122	0.83[AMR][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

No data

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	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:10730600-10764800	Weak transcription	Lung	lung
4	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
6	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
8	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
10	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:10735400-10764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:10738800-10764000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
15	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
16	chr12:10743400-10765400	Weak transcription	Gastric	stomach
17	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
19	chr12:10744200-10764000	Weak transcription	Ovary	ovary
20	chr12:10744200-10764600	Weak transcription	HSMMtube	muscle
21	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
22	chr12:10747000-10764800	Weak transcription	Right Ventricle	heart
23	chr12:10748000-10762400	Weak transcription	Hela-S3	cervix
24	chr12:10748400-10764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:10749400-10764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:10751800-10764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:10752000-10762600	Weak transcription	HepG2	liver
28	chr12:10752200-10764800	Weak transcription	Colonic Mucosa	Colon
29	chr12:10752400-10764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:10753200-10762800	Strong transcription	Primary B cells from cord blood	blood
31	chr12:10753400-10762600	Strong transcription	Dnd41	blood
32	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:10754000-10764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:10755000-10763600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:10755200-10762600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:10755200-10764600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:10755400-10763000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:10755800-10764800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:10756200-10763000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:10756200-10763000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:10756200-10763400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:10756400-10762800	Strong transcription	Liver	Liver
43	chr12:10756400-10763000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:10756400-10764800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:10756600-10762400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:10756600-10762800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:10756600-10763000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:10756600-10764600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:10757000-10762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:10757000-10763000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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