Variant report

Variant	rs2703871
Chromosome Location	chr8:36380480-36380481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10503990	0.86[EUR][1000 genomes]
rs10503991	0.83[EUR][1000 genomes]
rs10955002	0.86[EUR][1000 genomes]
rs11995775	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12675630	0.86[EUR][1000 genomes]
rs16885196	0.86[EUR][1000 genomes]
rs16885201	0.86[EUR][1000 genomes]
rs16885203	0.86[EUR][1000 genomes]
rs16885223	0.81[EUR][1000 genomes]
rs2703870	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703872	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843857	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843858	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843859	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843860	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843861	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56804036	0.83[EUR][1000 genomes]
rs59625671	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6468367	0.86[EUR][1000 genomes]
rs6468368	0.83[EUR][1000 genomes]
rs6468370	0.82[EUR][1000 genomes]
rs6994820	0.86[EUR][1000 genomes]
rs6996116	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7005989	0.83[EUR][1000 genomes]
rs7010462	0.83[EUR][1000 genomes]
rs73599493	0.86[EUR][1000 genomes]
rs73599494	0.86[EUR][1000 genomes]
rs73599496	0.86[EUR][1000 genomes]
rs73601422	0.82[EUR][1000 genomes]
rs763878	0.86[EUR][1000 genomes]
rs7822796	0.86[EUR][1000 genomes]
rs7830903	0.83[EUR][1000 genomes]
rs7845504	0.86[EUR][1000 genomes]
rs9642714	0.86[EUR][1000 genomes]
rs9642760	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9642761	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][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	nsv1034989	chr8:36242017-36436244	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1026897	chr8:36252557-36435042	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1023238	chr8:36252557-36530138	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1021042	chr8:36255132-36436244	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2761423	chr8:36255144-36403035	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1015637	chr8:36307431-36439165	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv520391	chr8:36331511-36384831	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv982088	chr8:36374918-36385547	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2703871	C1orf31	trans	parietal	SCAN
rs2703871	ADAM32	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36376200-36380800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:36380200-36381200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:36380200-36381400	Enhancers	H9 Cell Line	embryonic stem cell

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