Variant report

Variant	rs13123857
Chromosome Location	chr4:30973149-30973150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10017520	0.82[ASN][1000 genomes]
rs10020282	0.82[ASN][1000 genomes]
rs10023956	0.82[ASN][1000 genomes]
rs10939323	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10939324	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12640768	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12641436	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12642486	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12643430	0.84[EUR][1000 genomes]
rs12650559	0.81[EUR][1000 genomes]
rs13101341	0.84[EUR][1000 genomes]
rs13102223	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13102961	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116906	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13123980	0.84[EUR][1000 genomes]
rs13130452	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13137108	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13139117	1.00[AFR][1000 genomes]
rs13144696	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28373466	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317883	0.82[EUR][1000 genomes]
rs34347677	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35231537	0.84[EUR][1000 genomes]
rs35310460	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35427881	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35546479	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35580687	0.82[EUR][1000 genomes]
rs36048465	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4359861	0.84[EUR][1000 genomes]
rs4692108	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4692486	0.82[EUR][1000 genomes]
rs4692495	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs5014904	0.82[EUR][1000 genomes]
rs56829853	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58637784	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59134115	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60907125	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs67044628	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71598135	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs71602676	0.93[AFR][1000 genomes];0.82[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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30964600-30992600	Weak transcription	Aorta	Aorta
3	chr4:30967800-30976000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30971000-30975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:30971200-30976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:30972600-30973200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:30972600-30973400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:30972600-30973600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:30972800-30973200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:30972800-30973400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:30972800-30976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:30973000-30973200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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