Variant report

Variant	rs12580493
Chromosome Location	chr12:104040968-104040969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10778270	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861063	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861064	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861065	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861066	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861067	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10861068	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11111690	0.90[ASN][1000 genomes]
rs11111695	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111704	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12829198	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1582876	0.98[ASN][1000 genomes]
rs56077319	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488859	0.98[ASN][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	nsv1052275	chr12:104008918-104044241	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104033200-104062200	Weak transcription	Spleen	Spleen
2	chr12:104038400-104041600	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:104038800-104041400	Enhancers	Colon Smooth Muscle	Colon
4	chr12:104038800-104042000	Enhancers	HSMM	muscle
5	chr12:104039600-104041400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:104040200-104041600	Enhancers	Fetal Heart	heart
7	chr12:104040400-104041000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:104040400-104042000	Enhancers	NHEK	skin
9	chr12:104040400-104042200	Enhancers	HMEC	breast
10	chr12:104040600-104041000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:104040600-104041000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104040600-104041000	Flanking Active TSS	HSMMtube	muscle
13	chr12:104040600-104041200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:104040600-104041600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104040600-104041600	Enhancers	NH-A	brain
16	chr12:104040600-104041800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:104040600-104042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:104040600-104042400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104040800-104041000	Enhancers	Stomach Smooth Muscle	stomach
20	chr12:104040800-104041200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:104040800-104041400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:104040800-104041600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:104040800-104042000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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