Variant report

Variant	rs4795389
Chromosome Location	chr17:37772656-37772657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37772115..37773801-chr17:37825160..37827936,2	K562	blood:
2	chr17:37759878..37762418-chr17:37771643..37773208,2	MCF-7	breast:
3	chr17:37768363..37771309-chr17:37772118..37774468,3	K562	blood:
4	chr17:37763822..37767125-chr17:37772337..37774939,3	MCF-7	breast:
5	chr17:37771753..37773281-chr17:37910069..37912599,2	K562	blood:
6	chr17:37769208..37773729-chr17:37777189..37781252,6	K562	blood:

Variant related genes	Relation type
ENSG00000171532	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1018246	0.86[ASN][1000 genomes]
rs1053651	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852934	0.99[ASN][1000 genomes]
rs11651497	0.97[ASN][1000 genomes]
rs11658786	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11869286	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12150298	0.86[ASN][1000 genomes]
rs12150603	0.86[ASN][1000 genomes]
rs12453682	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12940986	0.87[ASN][1000 genomes]
rs14050	0.86[ASN][1000 genomes]
rs1476278	0.87[ASN][1000 genomes]
rs1495099	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495100	0.86[ASN][1000 genomes]
rs1495101	0.86[ASN][1000 genomes]
rs1495102	0.86[ASN][1000 genomes]
rs1565920	0.85[ASN][1000 genomes]
rs1565922	0.86[ASN][1000 genomes]
rs1874228	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877031	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2247862	0.86[ASN][1000 genomes]
rs2271308	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271309	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2313171	0.86[ASN][1000 genomes]
rs2517953	0.81[ASN][1000 genomes]
rs2517957	0.87[ASN][1000 genomes]
rs2517958	0.87[ASN][1000 genomes]
rs2934951	0.86[ASN][1000 genomes]
rs2934952	0.86[ASN][1000 genomes]
rs2934953	0.86[ASN][1000 genomes]
rs2934956	0.86[ASN][1000 genomes]
rs2941503	0.86[ASN][1000 genomes]
rs2941504	0.87[ASN][1000 genomes]
rs2941505	0.86[ASN][1000 genomes]
rs2941506	0.86[ASN][1000 genomes]
rs2952151	0.86[ASN][1000 genomes]
rs2952152	0.85[ASN][1000 genomes]
rs33953566	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751903	0.98[ASN][1000 genomes]
rs3764352	0.97[ASN][1000 genomes]
rs3764353	0.97[ASN][1000 genomes]
rs3794712	0.94[ASN][1000 genomes]
rs3817160	0.98[ASN][1000 genomes]
rs407307	0.83[ASN][1000 genomes]
rs4794817	0.98[ASN][1000 genomes]
rs4795388	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4795390	0.97[ASN][1000 genomes]
rs732083	0.86[ASN][1000 genomes]
rs732084	0.86[ASN][1000 genomes]
rs8077172	0.86[ASN][1000 genomes]
rs8078228	0.86[ASN][1000 genomes]
rs879606	0.99[ASN][1000 genomes]
rs881844	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs903501	0.87[ASN][1000 genomes]
rs903502	0.85[ASN][1000 genomes]
rs907087	0.86[ASN][1000 genomes]
rs907088	0.86[ASN][1000 genomes]
rs907089	0.86[ASN][1000 genomes]
rs907090	0.86[ASN][1000 genomes]
rs907094	0.97[ASN][1000 genomes]
rs9303274	0.87[ASN][1000 genomes]
rs9675194	0.86[ASN][1000 genomes]
rs9915323	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9972882	0.90[ASN][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	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4795389	PGAP3	cis	Heart Left Ventricle	GTEx
rs4795389	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs4795389	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37763600-37773600	Weak transcription	Gastric	stomach
2	chr17:37768000-37773600	Weak transcription	Right Atrium	heart
3	chr17:37771800-37776200	Enhancers	Fetal Brain Male	brain
4	chr17:37772000-37773200	Weak transcription	Hela-S3	cervix
5	chr17:37772400-37772800	Weak transcription	Fetal Brain Female	brain

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