Variant report

Variant	rs4968248
Chromosome Location	chr17:44993128-44993129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44988871..44990819-chr17:44992162..44994446,2	MCF-7	breast:
2	chr17:44985414..44989782-chr17:44990433..44993558,5	K562	blood:
3	chr17:44985994..44988745-chr17:44992560..44994159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262031	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1047779	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1052504	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1052586	0.96[ASN][1000 genomes]
rs10853085	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10853086	0.80[EUR][1000 genomes]
rs10853087	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079745	0.95[ASN][1000 genomes]
rs11652318	0.96[ASN][1000 genomes]
rs11654971	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11656362	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11658276	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11869840	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12453279	0.82[AMR][1000 genomes]
rs12601886	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12940071	0.97[ASN][1000 genomes]
rs1618989	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1623402	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662576	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662577	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662594	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662596	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662597	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17608961	0.96[ASN][1000 genomes]
rs1838105	0.80[EUR][1000 genomes]
rs1867237	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs197912	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs197913	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs197915	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs197917	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs197918	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs197919	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs197925	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs197926	0.96[ASN][1000 genomes]
rs2003538	0.93[ASN][1000 genomes]
rs2003539	0.97[ASN][1000 genomes]
rs2191033	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2316330	0.96[ASN][1000 genomes]
rs2317997	0.97[ASN][1000 genomes]
rs28553405	0.89[ASN][1000 genomes]
rs2920396	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2920397	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35707546	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3760377	0.96[ASN][1000 genomes]
rs3785888	0.97[ASN][1000 genomes]
rs3809854	0.96[ASN][1000 genomes]
rs3851784	0.96[ASN][1000 genomes]
rs3851785	0.96[ASN][1000 genomes]
rs3851786	0.91[ASN][1000 genomes]
rs3851787	0.93[ASN][1000 genomes]
rs4381655	0.96[ASN][1000 genomes]
rs4602097	0.96[ASN][1000 genomes]
rs4968246	0.83[AMR][1000 genomes]
rs4968250	0.95[ASN][1000 genomes]
rs4968285	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4968286	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4968287	0.94[ASN][1000 genomes]
rs4968288	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968290	0.85[ASN][1000 genomes]
rs62075889	0.97[ASN][1000 genomes]
rs6504622	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7213526	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225428	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7342957	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736603	0.94[ASN][1000 genomes]
rs736604	0.97[ASN][1000 genomes]
rs740617	0.97[ASN][1000 genomes]
rs9889741	0.97[ASN][1000 genomes]
rs9889762	0.96[ASN][1000 genomes]
rs9893713	0.84[ASN][1000 genomes]
rs9898981	0.97[ASN][1000 genomes]
rs9901977	0.84[ASN][1000 genomes]
rs9911967	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4968248	GOSR2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44988200-44999800	Weak transcription	Right Ventricle	heart
2	chr17:44988400-45000000	Weak transcription	Pancreas	Pancrea
3	chr17:44991200-44999800	Weak transcription	Brain Hippocampus Middle	brain
4	chr17:44991600-44999600	Weak transcription	Brain Anterior Caudate	brain
5	chr17:44992600-44994400	Enhancers	HMEC	breast
6	chr17:44992600-44994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:44992800-44993800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:44992800-44994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:44993000-44993200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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