Variant report

Variant	rs4964153
Chromosome Location	chr12:106054748-106054749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10466956	0.83[ASN][1000 genomes]
rs10861468	0.81[ASN][1000 genomes]
rs12306148	0.83[ASN][1000 genomes]
rs12306519	0.81[ASN][1000 genomes]
rs17041549	0.87[ASN][1000 genomes]
rs1986727	0.92[EUR][1000 genomes]
rs1986728	0.92[EUR][1000 genomes]
rs2374535	0.92[EUR][1000 genomes]
rs2888868	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964154	0.87[ASN][1000 genomes]
rs4964399	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7299169	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv560054	chr12:106048142-106083042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106051600-106055200	Enhancers	Right Atrium	heart
2	chr12:106051600-106055400	Enhancers	Fetal Muscle Leg	muscle
3	chr12:106052200-106055000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:106052200-106055200	Enhancers	HMEC	breast
5	chr12:106052400-106055000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:106052400-106055000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:106052400-106066400	Weak transcription	Aorta	Aorta
8	chr12:106052600-106055000	Enhancers	NHEK	skin
9	chr12:106052600-106055400	Enhancers	HSMMtube	muscle
10	chr12:106053000-106055000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:106053200-106055000	Enhancers	Psoas Muscle	Psoas
12	chr12:106054600-106054800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:106054600-106054800	Enhancers	Left Ventricle	heart
14	chr12:106054600-106054800	Enhancers	Lung	lung
15	chr12:106054600-106055200	Enhancers	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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