Variant report

Variant	rs12524609
Chromosome Location	chr6:24451855-24451856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24450784..24454394-chr6:24459260..24463305,3	K562	blood:
2	chr6:24446917..24448479-chr6:24451269..24452965,2	MCF-7	breast:
3	chr6:24391794..24393739-chr6:24451484..24453982,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10946700	0.81[ASN][1000 genomes]
rs10946701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194966	0.81[ASN][1000 genomes]
rs12198188	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13191455	0.80[AFR][1000 genomes]
rs13192752	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13205577	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13205780	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17247566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34089102	0.88[AMR][1000 genomes]
rs3846833	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60830931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400468	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922313	0.81[ASN][1000 genomes]
rs6922631	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71544274	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7762593	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7762901	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7766620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295624	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9461010	0.81[ASN][1000 genomes]
rs9461011	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9461012	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9461014	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9461015	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9467148	0.81[ASN][1000 genomes]
rs9467157	0.81[ASN][1000 genomes]
rs9467158	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9467160	0.81[ASN][1000 genomes]
rs9467161	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9467166	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9467168	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9467170	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9467171	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467172	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12524609	MRS2L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24421200-24459600	Weak transcription	Spleen	Spleen
2	chr6:24424000-24456600	Weak transcription	Ovary	ovary
3	chr6:24427600-24456800	Weak transcription	Lung	lung
4	chr6:24427800-24467000	Weak transcription	Brain Germinal Matrix	brain
5	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:24429200-24455600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:24429600-24455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:24432600-24463800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:24437600-24455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:24437800-24459600	Weak transcription	Left Ventricle	heart
12	chr6:24438000-24464000	Weak transcription	Pancreas	Pancrea
13	chr6:24438200-24455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:24438600-24459800	Weak transcription	Fetal Stomach	stomach
16	chr6:24438800-24469200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:24440400-24452000	Weak transcription	Primary T cells from cord blood	blood
18	chr6:24441400-24452000	Weak transcription	Thymus	Thymus
19	chr6:24442000-24452000	Weak transcription	Fetal Thymus	thymus
20	chr6:24444000-24458200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:24447200-24470200	Weak transcription	Aorta	Aorta
22	chr6:24447400-24490400	Weak transcription	Brain Anterior Caudate	brain
23	chr6:24448200-24466200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:24448400-24452000	Weak transcription	K562	blood
25	chr6:24448400-24458000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:24448800-24488000	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:24450000-24452000	Weak transcription	Gastric	stomach
28	chr6:24450200-24459400	Weak transcription	Esophagus	oesophagus
29	chr6:24451200-24452800	Enhancers	Hela-S3	cervix
30	chr6:24451600-24452400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:24451600-24452400	Enhancers	Adipose Nuclei	Adipose
32	chr6:24451600-24453000	Enhancers	Placenta	Placenta
33	chr6:24451800-24452000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:24451800-24452000	Weak transcription	Liver	Liver
35	chr6:24451800-24452200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:24451800-24452200	Enhancers	Right Atrium	heart

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