Variant report

Variant	rs12024335
Chromosome Location	chr1:171666062-171666063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171665381..171668263-chr1:171669803..171671698,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489250	0.85[EUR][1000 genomes]
rs10913484	0.91[ASN][1000 genomes]
rs12021915	0.85[EUR][1000 genomes]
rs12022661	0.85[EUR][1000 genomes]
rs12024194	0.85[EUR][1000 genomes]
rs12028096	0.82[EUR][1000 genomes]
rs12029218	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12034114	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12036980	0.82[EUR][1000 genomes]
rs12089083	0.80[ASN][1000 genomes]
rs12095503	0.91[ASN][1000 genomes]
rs16843227	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421910	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57300412	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58081399	0.81[ASN][1000 genomes]
rs61413126	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6659266	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6665590	0.81[ASN][1000 genomes]
rs6665614	0.85[EUR][1000 genomes]
rs6695031	0.94[ASN][1000 genomes]
rs72717888	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717895	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717900	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72719512	0.85[EUR][1000 genomes]
rs7543786	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7554793	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171664000-171668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:171664200-171667600	Weak transcription	Left Ventricle	heart
3	chr1:171664400-171685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:171664600-171674400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:171664800-171668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:171664800-171684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:171665000-171669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:171665000-171692000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:171665400-171674600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:171665800-171666400	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr1:171665800-171666800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr1:171665800-171667400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:171666000-171667600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:171666000-171668200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:171666000-171668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:171666000-171668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:171666000-171669000	Strong transcription	Aorta	Aorta
20	chr1:171666000-171674200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:171666000-171676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:171666000-171676600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:171666000-171685000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea

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