Variant report

Variant	rs4571271
Chromosome Location	chr3:150433468-150433469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1131685	0.96[EUR][1000 genomes]
rs11714948	1.00[ASN][1000 genomes]
rs11719012	0.90[EUR][1000 genomes]
rs13063408	0.97[EUR][1000 genomes]
rs13065451	0.92[EUR][1000 genomes]
rs13068979	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074103	0.97[EUR][1000 genomes]
rs13074670	0.97[EUR][1000 genomes]
rs13079739	0.84[EUR][1000 genomes]
rs13079755	0.92[EUR][1000 genomes]
rs13085974	0.93[EUR][1000 genomes]
rs13086215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086267	0.93[EUR][1000 genomes]
rs13086869	0.94[EUR][1000 genomes]
rs13090897	0.97[EUR][1000 genomes]
rs17281287	0.96[EUR][1000 genomes]
rs1897494	0.97[EUR][1000 genomes]
rs2869477	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34587198	1.00[ASN][1000 genomes]
rs5007703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4571271	FAM194A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150422200-150439400	Weak transcription	Ovary	ovary
2	chr3:150422200-150443200	Weak transcription	Lung	lung
3	chr3:150422400-150434800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:150422400-150443000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:150422600-150439200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:150422600-150439200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:150422600-150439400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:150422600-150439400	Weak transcription	Adipose Nuclei	Adipose
9	chr3:150422600-150441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:150423200-150451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:150423600-150439400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:150423800-150439400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:150428400-150439600	Weak transcription	Left Ventricle	heart
14	chr3:150428600-150439200	Weak transcription	Fetal Kidney	kidney
15	chr3:150428800-150439000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:150428800-150439200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:150429000-150439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:150429200-150439400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:150429200-150439400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:150429200-150439400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:150429200-150444600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:150429200-150457600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:150430000-150455000	Weak transcription	Primary T cells from cord blood	blood
24	chr3:150430200-150439400	Weak transcription	Fetal Thymus	thymus
25	chr3:150430400-150441600	Weak transcription	Thymus	Thymus
26	chr3:150430800-150454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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