Variant report

Variant	rs4570393
Chromosome Location	chr1:67371629-67371630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10749766	0.88[EUR][1000 genomes]
rs10789219	0.85[EUR][1000 genomes]
rs1118392	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1118393	0.85[ASN][1000 genomes]
rs11208971	0.86[EUR][1000 genomes]
rs11208973	0.85[EUR][1000 genomes]
rs11208974	0.85[EUR][1000 genomes]
rs11208976	0.85[ASN][1000 genomes]
rs11208978	0.82[ASN][1000 genomes]
rs11208979	0.82[ASN][1000 genomes]
rs12041926	0.85[ASN][1000 genomes]
rs12131222	0.82[ASN][1000 genomes]
rs12137403	0.85[ASN][1000 genomes]
rs12562761	0.85[EUR][1000 genomes]
rs12742428	0.83[EUR][1000 genomes]
rs1570838	0.85[EUR][1000 genomes]
rs1886686	0.89[ASN][1000 genomes]
rs1925408	0.85[ASN][1000 genomes]
rs1925409	0.89[EUR][1000 genomes]
rs1925410	0.89[EUR][1000 genomes]
rs1925411	0.89[ASN][1000 genomes]
rs1925412	0.89[ASN][1000 genomes]
rs1925413	0.89[ASN][1000 genomes]
rs2025608	0.89[ASN][1000 genomes]
rs2031495	0.89[ASN][1000 genomes]
rs2104415	0.85[EUR][1000 genomes]
rs2147838	0.85[ASN][1000 genomes]
rs2182143	0.89[ASN][1000 genomes]
rs2985794	0.89[ASN][1000 genomes]
rs2985795	0.89[ASN][1000 genomes]
rs2985797	0.85[ASN][1000 genomes]
rs2985808	0.85[ASN][1000 genomes]
rs2985810	0.89[ASN][1000 genomes]
rs2985811	0.85[ASN][1000 genomes]
rs2985816	0.89[ASN][1000 genomes]
rs2985817	0.89[ASN][1000 genomes]
rs2985818	0.89[ASN][1000 genomes]
rs2985821	0.89[ASN][1000 genomes]
rs2985822	0.89[ASN][1000 genomes]
rs2985824	0.89[ASN][1000 genomes]
rs2985825	0.89[ASN][1000 genomes]
rs2985826	0.89[ASN][1000 genomes]
rs2985830	0.89[ASN][1000 genomes]
rs3008848	0.89[ASN][1000 genomes]
rs3008852	0.89[ASN][1000 genomes]
rs3008853	0.89[ASN][1000 genomes]
rs3008854	0.89[ASN][1000 genomes]
rs3008855	0.89[ASN][1000 genomes]
rs3008856	0.89[ASN][1000 genomes]
rs3008858	0.82[ASN][1000 genomes]
rs3008859	0.85[ASN][1000 genomes]
rs3008860	0.89[ASN][1000 genomes]
rs3008861	0.89[ASN][1000 genomes]
rs3008865	0.89[ASN][1000 genomes]
rs3008870	0.89[ASN][1000 genomes]
rs3008871	0.84[ASN][1000 genomes]
rs3008873	0.89[ASN][1000 genomes]
rs3008874	0.85[ASN][1000 genomes]
rs3008875	0.85[ASN][1000 genomes]
rs3008888	0.89[ASN][1000 genomes]
rs3008892	0.89[ASN][1000 genomes]
rs3008894	0.89[ASN][1000 genomes]
rs35365746	0.82[ASN][1000 genomes]
rs3736905	0.85[EUR][1000 genomes]
rs3929738	0.85[EUR][1000 genomes]
rs4655658	0.89[ASN][1000 genomes]
rs4655660	0.85[EUR][1000 genomes]
rs4655661	0.85[EUR][1000 genomes]
rs4655662	0.84[EUR][1000 genomes]
rs4655663	0.89[ASN][1000 genomes]
rs58680688	0.82[ASN][1000 genomes]
rs6657065	0.86[EUR][1000 genomes]
rs72673725	0.82[ASN][1000 genomes]
rs7511948	0.85[ASN][1000 genomes]
rs912797	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871738	chr1:67268642-67375206	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv871259	chr1:67275027-67375206	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3448405	chr1:67360980-67393830	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4570393	MIER1	cis	Artery Aorta	GTEx
rs4570393	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67348400-67389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:67349400-67389600	Weak transcription	Aorta	Aorta
3	chr1:67352200-67372600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:67352800-67385600	Weak transcription	Ovary	ovary
5	chr1:67359400-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:67364000-67382000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:67364000-67385800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:67364000-67389000	Weak transcription	Osteobl	bone
9	chr1:67364600-67372000	Weak transcription	Left Ventricle	heart
10	chr1:67364800-67388800	Weak transcription	NHDF-Ad	bronchial
11	chr1:67365000-67383200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:67366600-67389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:67367600-67374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:67367800-67385400	Weak transcription	Fetal Stomach	stomach
15	chr1:67369600-67385600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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