Variant report

Variant	rs12138137
Chromosome Location	chr1:56325176-56325177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56323265..56326203-chr1:56327574..56329306,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10493183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493187	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493189	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493190	1.00[ASN][1000 genomes]
rs10493191	1.00[ASN][1000 genomes]
rs10888940	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888944	0.82[AFR][1000 genomes]
rs10888947	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10888948	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11206673	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206677	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206680	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11206681	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11206689	1.00[ASN][1000 genomes]
rs11206690	1.00[ASN][1000 genomes]
rs11582662	1.00[ASN][1000 genomes]
rs12058087	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070494	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12092701	1.00[ASN][1000 genomes]
rs12118218	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119904	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120132	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123418	1.00[ASN][1000 genomes]
rs12123610	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124871	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12141873	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12145137	1.00[ASN][1000 genomes]
rs17112888	1.00[ASN][1000 genomes]
rs17113073	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2067637	1.00[ASN][1000 genomes]
rs41285922	1.00[ASN][1000 genomes]
rs4313435	0.96[AFR][1000 genomes]
rs55693755	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58538058	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59959484	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774839	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61774843	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61777585	1.00[ASN][1000 genomes]
rs61777621	1.00[ASN][1000 genomes]
rs6657176	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6659096	1.00[ASN][1000 genomes]
rs6691673	1.00[ASN][1000 genomes]
rs7516605	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7517205	1.00[ASN][1000 genomes]
rs7517995	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7530878	1.00[ASN][1000 genomes]
rs7540772	1.00[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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56320800-56325600	Weak transcription	NHDF-Ad	bronchial
2	chr1:56321000-56325600	Weak transcription	Fetal Lung	lung
3	chr1:56321200-56325400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56321400-56325400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:56321400-56325400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:56321600-56325800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:56322400-56325200	Weak transcription	Left Ventricle	heart
8	chr1:56322400-56333400	Weak transcription	Psoas Muscle	Psoas
9	chr1:56322600-56325200	Weak transcription	Fetal Stomach	stomach
10	chr1:56323000-56325400	Weak transcription	Fetal Heart	heart
11	chr1:56323000-56325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:56323200-56326200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:56323800-56325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:56324400-56325400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:56324600-56325400	Weak transcription	Placenta	Placenta
16	chr1:56324600-56327200	Enhancers	Fetal Intestine Large	intestine
17	chr1:56324600-56327600	Enhancers	Fetal Intestine Small	intestine

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