Variant report

Variant	rs2264667
Chromosome Location	chr7:65513773-65513774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1084094	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950021	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10950022	0.84[EUR][1000 genomes]
rs1167398	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11767030	0.84[EUR][1000 genomes]
rs11773552	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12532875	0.80[EUR][1000 genomes]
rs12532877	0.80[EUR][1000 genomes]
rs12534626	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12535204	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12538430	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12540589	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12671816	0.84[EUR][1000 genomes]
rs2420048	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313811	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs382062	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs401176	0.88[EUR][1000 genomes]
rs4535605	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs453835	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs454696	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4717280	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718296	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718298	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59187325	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60711791	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6460266	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6959267	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6971490	0.81[EUR][1000 genomes]
rs6971690	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73142138	0.82[EUR][1000 genomes]
rs73142150	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73142153	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73142155	0.84[EUR][1000 genomes]
rs73148071	0.83[EUR][1000 genomes]
rs7779679	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7786356	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7800210	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7803283	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7807457	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2264667	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs2264667	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs2264667	RP13-254B10.1	cis	Esophagus Mucosa	GTEx
rs2264667	RP4-756H11.3	cis	Thyroid	GTEx
rs2264667	RP4-756H11.3	cis	Nerve Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65509400-65515200	Weak transcription	HepG2	liver
2	chr7:65509800-65515800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:65509800-65517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:65513000-65515400	Weak transcription	Osteobl	bone
5	chr7:65513000-65515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:65513000-65515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:65513000-65515600	Weak transcription	HSMM	muscle
8	chr7:65513200-65514600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:65513200-65515000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:65513200-65515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:65513400-65514600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:65513400-65514600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:65513400-65514600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:65513400-65515200	Weak transcription	NHDF-Ad	bronchial
15	chr7:65513400-65515400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:65513400-65515400	Weak transcription	A549	lung
17	chr7:65513400-65515400	Weak transcription	Hela-S3	cervix
18	chr7:65513400-65515400	Weak transcription	NHLF	lung
19	chr7:65513400-65515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:65513400-65515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:65513400-65515800	Weak transcription	NH-A	brain
22	chr7:65513400-65515800	Weak transcription	NHEK	skin
23	chr7:65513600-65515600	Weak transcription	HMEC	breast

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