Variant report

Variant	rs35112839
Chromosome Location	chr17:37613884-37613885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37610533..37614479-chr17:37614932..37618128,4	MCF-7	breast:
2	chr17:37612285..37614010-chr17:37617714..37619642,3	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 187 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:175)

rs_ID	r²[population]
rs10221223	0.85[ASN][1000 genomes]
rs10445305	0.81[EUR][1000 genomes]
rs10445306	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10445307	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10491128	0.91[ASN][1000 genomes]
rs10775391	0.81[ASN][1000 genomes]
rs1077715	0.81[ASN][1000 genomes]
rs11078898	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078900	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078901	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11078902	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078903	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078904	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078905	0.84[ASN][1000 genomes]
rs11078906	0.85[ASN][1000 genomes]
rs11078907	0.85[ASN][1000 genomes]
rs11078910	0.83[ASN][1000 genomes]
rs11078911	0.83[ASN][1000 genomes]
rs11078912	0.83[ASN][1000 genomes]
rs11078913	0.83[ASN][1000 genomes]
rs11650081	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11650146	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11651089	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11657899	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658678	0.81[ASN][1000 genomes]
rs11659010	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11867312	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11868029	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11868030	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11868133	0.89[ASN][1000 genomes]
rs11869109	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11869259	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11869323	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11870631	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150047	0.86[ASN][1000 genomes]
rs12150493	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12449852	0.84[ASN][1000 genomes]
rs12451586	0.86[AMR][1000 genomes]
rs12452509	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12452682	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12452880	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12453397	0.82[AMR][1000 genomes]
rs12600625	0.89[ASN][1000 genomes]
rs12600751	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12936646	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12936996	0.83[ASN][1000 genomes]
rs12937703	0.91[ASN][1000 genomes]
rs12938099	0.86[ASN][1000 genomes]
rs12938268	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12939831	0.88[ASN][1000 genomes]
rs12942352	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12942360	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12943928	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12947281	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12947600	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12947620	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12948906	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12950666	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12952384	0.83[ASN][1000 genomes]
rs13341996	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2018026	0.85[ASN][1000 genomes]
rs2338797	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2338798	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2338800	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2338801	0.82[ASN][1000 genomes]
rs34363096	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34432983	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34597616	0.90[ASN][1000 genomes]
rs34957982	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35285898	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35497503	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35546703	0.87[ASN][1000 genomes]
rs35667594	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36064019	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3889368	0.81[ASN][1000 genomes]
rs4286140	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4390625	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4410117	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462633	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4511574	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4794807	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4794809	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4794810	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4794813	0.83[ASN][1000 genomes]
rs4795356	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4795357	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4795358	0.82[ASN][1000 genomes]
rs4795359	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795361	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4795362	0.80[ASN][1000 genomes]
rs4795364	0.93[ASN][1000 genomes]
rs4795367	0.86[ASN][1000 genomes]
rs4795369	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4795371	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4795376	0.83[ASN][1000 genomes]
rs4795377	0.83[ASN][1000 genomes]
rs55660616	0.81[ASN][1000 genomes]
rs55722796	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57399933	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57448077	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61161659	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62075056	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62077463	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62077464	0.84[ASN][1000 genomes]
rs6503502	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6503503	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503506	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6503507	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6503513	0.92[ASN][1000 genomes]
rs6503515	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6503517	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6503518	0.85[ASN][1000 genomes]
rs68178216	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7208252	0.82[ASN][1000 genomes]
rs7208274	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7208714	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7210488	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7212715	0.89[AFR][1000 genomes]
rs7212868	0.85[AFR][1000 genomes]
rs7218074	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7218484	0.84[ASN][1000 genomes]
rs7218670	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7219014	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7219294	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7220650	0.85[ASN][1000 genomes]
rs7221875	0.88[ASN][1000 genomes]
rs7223331	0.85[ASN][1000 genomes]
rs7223438	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7223896	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7225096	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73293051	0.86[ASN][1000 genomes]
rs7359658	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7405667	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7406928	0.81[ASN][1000 genomes]
rs7501488	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7503514	0.83[ASN][1000 genomes]
rs7503705	0.83[ASN][1000 genomes]
rs8065879	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8065963	0.81[ASN][1000 genomes]
rs8066704	0.85[ASN][1000 genomes]
rs8067302	0.85[ASN][1000 genomes]
rs8067511	0.85[ASN][1000 genomes]
rs8067884	0.83[ASN][1000 genomes]
rs8067948	0.85[ASN][1000 genomes]
rs8068427	0.84[ASN][1000 genomes]
rs8070695	0.85[ASN][1000 genomes]
rs8072297	0.82[ASN][1000 genomes]
rs8072351	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8074276	0.83[ASN][1000 genomes]
rs8074855	0.86[ASN][1000 genomes]
rs8076494	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8076546	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077104	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8079303	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8079560	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8081033	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8081780	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9646419	0.86[ASN][1000 genomes]
rs9892055	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9892675	0.91[ASN][1000 genomes]
rs9894500	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9894586	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9894864	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9896913	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9898170	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9898773	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9901219	0.92[ASN][1000 genomes]
rs9903363	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9904919	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9905432	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9905617	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9908760	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9909064	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9916302	0.82[ASN][1000 genomes]
rs9944411	0.85[ASN][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	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	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
10	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
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35112839	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs35112839	PGAP3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37608400-37616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr17:37608400-37617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:37608600-37614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:37608600-37616800	Weak transcription	Hela-S3	cervix
5	chr17:37608600-37617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:37608800-37616800	Weak transcription	Right Ventricle	heart
7	chr17:37610800-37616800	Weak transcription	K562	blood
8	chr17:37612000-37616400	Weak transcription	Liver	Liver
9	chr17:37613400-37614400	Enhancers	HepG2	liver

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