Variant report

Variant	rs12140284
Chromosome Location	chr1:56612622-56612623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489773	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11206733	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12072872	0.85[ASN][1000 genomes]
rs12072883	0.85[ASN][1000 genomes]
rs12077930	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12080296	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12117195	0.84[EUR][1000 genomes]
rs12117303	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12123596	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12132426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12408150	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12408597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12410703	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1591010	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2793661	0.81[MEX][hapmap]
rs4927300	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4927301	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4927305	0.81[EUR][1000 genomes]
rs4927306	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59536199	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61772132	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61772134	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61772138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61773369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6588607	0.81[EUR][1000 genomes]
rs6682819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695004	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7512228	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7526008	0.85[ASN][1000 genomes]
rs7543532	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7544293	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12140284	HSPB11	cis	parietal	SCAN
rs12140284	TTC4	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56604400-56613600	Weak transcription	HUVEC	blood vessel
2	chr1:56605800-56622600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56610800-56613600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:56611000-56612800	Enhancers	Fetal Thymus	thymus
5	chr1:56611000-56613600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:56611200-56612800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:56611200-56617600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:56611400-56613000	Enhancers	Adipose Nuclei	Adipose
9	chr1:56611400-56613600	Enhancers	Fetal Kidney	kidney
10	chr1:56611400-56613600	Enhancers	NHDF-Ad	bronchial
11	chr1:56611400-56613800	Enhancers	Fetal Stomach	stomach
12	chr1:56611600-56613000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:56612000-56612800	Enhancers	Fetal Lung	lung
14	chr1:56612000-56613200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:56612000-56613400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:56612200-56612800	Enhancers	Fetal Muscle Leg	muscle
17	chr1:56612200-56612800	Enhancers	Ovary	ovary
18	chr1:56612600-56613600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:56612600-56615600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:56612600-56616000	Weak transcription	Psoas Muscle	Psoas

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