Variant report

Variant	rs3765654
Chromosome Location	chr1:74709711-74709712
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493529	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs11210407	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs11210427	0.96[CEU][hapmap];1.00[TSI][hapmap]
rs11210430	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11210433	0.96[EUR][1000 genomes]
rs11210443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024616	0.97[EUR][1000 genomes]
rs12026140	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs12029606	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs12029814	0.86[CEU][hapmap]
rs12031026	0.97[EUR][1000 genomes]
rs12033705	0.92[CEU][hapmap]
rs12036659	0.92[CEU][hapmap]
rs12038237	0.97[EUR][1000 genomes]
rs12043976	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs12046751	0.96[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs12048351	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs12402231	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12404294	0.87[EUR][1000 genomes]
rs12410230	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12410879	0.96[EUR][1000 genomes]
rs12746942	0.88[CEU][hapmap]
rs12746996	0.92[CEU][hapmap]
rs12747924	0.95[EUR][1000 genomes]
rs1483790	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17524893	0.92[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs17526617	0.95[EUR][1000 genomes]
rs17591640	0.96[EUR][1000 genomes]
rs17591703	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17592507	0.96[EUR][1000 genomes]
rs1856789	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1930588	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2035473	0.92[CEU][hapmap]
rs4596834	0.91[CEU][hapmap]
rs7529384	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs9804006	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs9970514	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv871381	chr1:74484753-74712181	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv871456	chr1:74492200-74712181	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv428785	chr1:74640545-74818577	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv870486	chr1:74654182-74804833	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv870554	chr1:74678285-74804833	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv523474	chr1:74699099-74794119	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3765654	FPGT	cis	lung	GTEx
rs3765654	LRRIQ3	cis	Thyroid	GTEx
rs3765654	LRRC44	Cis_1M	lymphoblastoid	RTeQTL
rs3765654	LRRIQ3	cis	Nerve Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:74671400-74751800	Weak transcription	Ovary	ovary
3	chr1:74675800-74724000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:74697800-74710600	Weak transcription	Psoas Muscle	Psoas
5	chr1:74700600-74713800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:74703800-74716600	Weak transcription	Left Ventricle	heart
7	chr1:74708000-74711000	Enhancers	Fetal Heart	heart
8	chr1:74709600-74710000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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