Variant report

Variant	rs7315361
Chromosome Location	chr12:66671779-66671780
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10748037	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10784519	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10784520	0.98[EUR][1000 genomes]
rs10878396	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10878397	0.98[EUR][1000 genomes]
rs10878402	0.80[CEU][hapmap]
rs10878403	0.80[CEU][hapmap]
rs11176115	0.88[EUR][1000 genomes]
rs11176117	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176120	0.94[EUR][1000 genomes]
rs11176125	0.80[CEU][hapmap]
rs1168324	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12146776	0.88[EUR][1000 genomes]
rs12371662	0.94[EUR][1000 genomes]
rs12423377	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12818303	0.85[EUR][1000 genomes]
rs12822967	0.95[EUR][1000 genomes]
rs1603244	0.84[EUR][1000 genomes]
rs1816562	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2047236	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2047237	0.85[EUR][1000 genomes]
rs2088169	0.85[EUR][1000 genomes]
rs2118137	0.84[EUR][1000 genomes]
rs289065	0.97[EUR][1000 genomes]
rs2904497	0.80[EUR][1000 genomes]
rs6421217	0.83[CEU][hapmap]
rs6581669	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581672	0.80[EUR][1000 genomes]
rs7137005	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137378	0.96[EUR][1000 genomes]
rs7138034	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs724739	0.92[EUR][1000 genomes]
rs724742	0.91[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308068	0.82[CEU][hapmap]
rs7959802	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972934	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs9971666	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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
4	nsv976638	chr12:66669568-66672732	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7315361	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66664400-66673000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:66664600-66672800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:66664600-66672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:66664600-66673000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:66667600-66672800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:66669600-66673000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:66670000-66672600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:66670000-66672800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:66670200-66672800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:66670200-66673000	Weak transcription	Primary T cells from cord blood	blood
11	chr12:66670400-66672600	Weak transcription	Monocytes-CD14+_RO01746	blood

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