Variant report

Variant	rs35708376
Chromosome Location	chr11:71233178-71233179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11234014	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2186777	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4245442	0.83[AMR][1000 genomes]
rs7118246	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7925331	0.80[AMR][1000 genomes]
rs7938023	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7940244	0.83[AMR][1000 genomes]
rs9705153	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3358074	chr11:71230804-71235902	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3454664	chr11:71231854-71234652	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3454675	chr11:71231854-71234652	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3392721	chr11:71232204-71235602	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs35708376	RP11-660L16.2	cis	Heart Left Ventricle	GTEx
rs35708376	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx
rs35708376	RP11-660L16.2	cis	Esophagus Muscularis	GTEx
rs35708376	RP11-660L16.2	cis	Adipose Subcutaneous	GTEx
rs35708376	RP11-660L16.2	cis	Nerve Tibial	GTEx
rs35708376	NADSYN1	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71215600-71236600	Weak transcription	Brain Anterior Caudate	brain
2	chr11:71216400-71235400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:71230400-71235800	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:71230800-71233600	Weak transcription	Adipose Nuclei	Adipose
5	chr11:71232800-71233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:71232800-71236400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:71232800-71236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:71232800-71243600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:71232800-71245800	Weak transcription	Pancreas	Pancrea
10	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:71233000-71235600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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