Variant report

Variant	rs17633451
Chromosome Location	chr2:114528877-114528878
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114514673..114516598-chr2:114527693..114530348,3	K562	blood:
2	chr2:114513854..114516173-chr2:114527301..114529193,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10169190	0.89[EUR][1000 genomes]
rs10197009	0.87[EUR][1000 genomes]
rs10199515	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs1062074	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12329244	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs12711781	0.85[EUR][1000 genomes]
rs12711787	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12998926	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13025042	0.89[EUR][1000 genomes]
rs13393247	0.87[EUR][1000 genomes]
rs13395272	0.84[EUR][1000 genomes]
rs13401587	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs13407986	0.83[EUR][1000 genomes]
rs13408264	0.84[EUR][1000 genomes]
rs13409879	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13410586	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13416738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424899	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs13428433	0.85[EUR][1000 genomes]
rs17048299	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs17048506	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs28392566	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34004564	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34026450	0.84[EUR][1000 genomes]
rs34451679	0.87[EUR][1000 genomes]
rs34480436	0.89[EUR][1000 genomes]
rs35049717	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35073956	0.84[EUR][1000 genomes]
rs35192494	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35255260	0.87[EUR][1000 genomes]
rs56316177	0.92[AMR][1000 genomes]
rs62170066	0.89[EUR][1000 genomes]
rs7600251	0.91[EUR][1000 genomes]
rs998151	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3521146	chr2:114525732-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3521145	chr2:114526082-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3521150	chr2:114526469-114532141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459738	chr2:114526683-114531812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3521147	chr2:114526695-114531786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3521149	chr2:114526701-114531806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3459739	chr2:114526728-114531791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3521144	chr2:114526738-114531733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3521143	chr2:114526763-114531745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3521148	chr2:114526814-114531704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv498931	chr2:114526817-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3459740	chr2:114526818-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3521151	chr2:114526818-114531702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv14064	chr2:114527121-114531330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17633451	MGC70863	trans	multi-tissue	Pritchard
rs17633451	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx
rs17633451	SLC35F5	cis	parietal	SCAN
rs17633451	CHCHD5	cis	cerebellum	SCAN
rs17633451	SLC35F5	cis	cerebellum	SCAN
rs17633451	RPL23AP7	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114526800-114529400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:114526800-114529400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114528800-114529600	Enhancers	H1 Cell Line	embryonic stem cell

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