Variant report

Variant	rs12820331
Chromosome Location	chr12:106361030-106361031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106358492..106362174-chr12:106362759..106365345,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10082945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507207	0.88[ASN][1000 genomes]
rs10861535	0.97[ASN][1000 genomes]
rs10861536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611601	0.89[ASN][1000 genomes]
rs12426791	0.88[ASN][1000 genomes]
rs12812572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362980	0.88[ASN][1000 genomes]
rs1362981	0.88[ASN][1000 genomes]
rs2032769	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819527	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312161	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4497504	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4592505	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138695	0.85[AFR][1000 genomes]
rs7138736	0.84[AFR][1000 genomes]
rs7300069	0.85[ASN][1000 genomes]
rs7973846	0.88[ASN][1000 genomes]
rs7976523	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106356000-106376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106356600-106364000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:106356800-106363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:106359200-106363800	Enhancers	Fetal Heart	heart
5	chr12:106359800-106362000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:106360000-106361800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:106360400-106361200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:106360400-106362000	Enhancers	HSMM	muscle
9	chr12:106360400-106362200	Enhancers	HSMMtube	muscle
10	chr12:106360600-106361200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:106360600-106361200	Enhancers	Fetal Muscle Leg	muscle
12	chr12:106360600-106361200	Enhancers	Ovary	ovary
13	chr12:106360600-106361800	Enhancers	HUVEC	blood vessel
14	chr12:106360800-106361200	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:106360800-106361200	Enhancers	Fetal Stomach	stomach
16	chr12:106360800-106361200	Enhancers	Osteobl	bone
17	chr12:106360800-106361600	Enhancers	Adipose Nuclei	Adipose
18	chr12:106360800-106361800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:106360800-106361800	Enhancers	NH-A	brain
20	chr12:106360800-106362200	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:106361000-106361800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:106361000-106361800	Enhancers	Colon Smooth Muscle	Colon
23	chr12:106361000-106362000	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:106361000-106367000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links