Variant report

Variant	rs12509248
Chromosome Location	chr4:102885084-102885085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10013187	0.82[ASN][1000 genomes]
rs10031172	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1027012	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10516483	0.82[ASN][1000 genomes]
rs10856963	0.81[ASN][1000 genomes]
rs11097766	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11734871	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331595	0.93[ASN][1000 genomes]
rs12331849	0.82[ASN][1000 genomes]
rs12498921	0.81[ASN][1000 genomes]
rs12513249	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128022	0.82[ASN][1000 genomes]
rs13144307	0.82[ASN][1000 genomes]
rs17208914	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2008254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497409	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33973573	0.95[EUR][1000 genomes]
rs4235402	0.82[ASN][1000 genomes]
rs4270588	0.82[ASN][1000 genomes]
rs4270589	0.82[ASN][1000 genomes]
rs4296682	0.82[ASN][1000 genomes]
rs4365725	0.82[ASN][1000 genomes]
rs4426778	0.82[ASN][1000 genomes]
rs4443287	0.82[ASN][1000 genomes]
rs4530633	0.85[ASN][1000 genomes]
rs4554079	0.82[ASN][1000 genomes]
rs4607219	0.81[ASN][1000 genomes]
rs4610336	0.81[ASN][1000 genomes]
rs4698972	0.81[ASN][1000 genomes]
rs4698974	0.82[ASN][1000 genomes]
rs4698985	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55850377	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202597	0.81[AMR][1000 genomes]
rs57799233	0.82[ASN][1000 genomes]
rs58654655	0.82[ASN][1000 genomes]
rs60500975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62322696	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62322737	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62322738	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6850747	0.82[ASN][1000 genomes]
rs6857428	0.82[ASN][1000 genomes]
rs6858108	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7441177	0.81[ASN][1000 genomes]
rs7656720	0.82[ASN][1000 genomes]
rs7682346	0.82[ASN][1000 genomes]
rs7686702	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2752360	chr4:102790822-102888822	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12509248	BANK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102869400-102889200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:102876800-102887800	Weak transcription	A549	lung
3	chr4:102882600-102889600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:102883400-102891400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:102883600-102889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:102883600-102891400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:102884800-102889400	Strong transcription	Primary B cells from cord blood	blood

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