Variant report

Variant	rs1816562
Chromosome Location	chr12:66678337-66678338
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	chr12:66677212..66678762-chr12:66694729..66696649,2	K562	blood:

Variant related genes	Relation type
ENSG00000127311	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1009211	0.80[EUR][1000 genomes]
rs10748037	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs10784519	1.00[CEU][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs10784520	0.95[EUR][1000 genomes]
rs10878396	1.00[CEU][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs10878397	0.95[EUR][1000 genomes]
rs10878401	0.80[EUR][1000 genomes]
rs10878402	0.81[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs10878403	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs11176115	0.85[EUR][1000 genomes]
rs11176117	0.88[EUR][1000 genomes]
rs11176120	0.91[EUR][1000 genomes]
rs11176125	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs11176126	0.80[EUR][1000 genomes]
rs11176132	0.81[EUR][1000 genomes]
rs1168324	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12146776	0.86[EUR][1000 genomes]
rs12371662	0.91[EUR][1000 genomes]
rs12423377	1.00[CEU][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs12818303	0.85[EUR][1000 genomes]
rs12822967	0.92[EUR][1000 genomes]
rs1370125	0.81[EUR][1000 genomes]
rs1603244	0.84[EUR][1000 genomes]
rs2043668	0.84[CHB][hapmap]
rs2047236	0.85[EUR][1000 genomes]
rs2047237	0.83[EUR][1000 genomes]
rs2088169	0.85[EUR][1000 genomes]
rs2118137	0.85[EUR][1000 genomes]
rs289058	0.83[CHB][hapmap]
rs289061	0.90[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs289065	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs289066	0.80[YRI][hapmap]
rs2904497	0.82[EUR][1000 genomes]
rs6421217	0.83[CEU][hapmap]
rs6581669	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6581672	0.82[EUR][1000 genomes]
rs7137005	0.94[EUR][1000 genomes]
rs7137378	0.93[EUR][1000 genomes]
rs7138034	0.86[EUR][1000 genomes]
rs724739	0.89[EUR][1000 genomes]
rs724742	0.92[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs7306114	0.81[EUR][1000 genomes]
rs7308068	0.83[CEU][hapmap]
rs7315361	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7959802	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7968129	0.81[EUR][1000 genomes]
rs7972934	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs974349	0.81[EUR][1000 genomes]
rs9971666	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1816562	HELB	Cis_1M	lymphoblastoid	RTeQTL
rs1816562	HELB	cis	Muscle Skeletal	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66673600-66680400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:66674400-66678400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:66674800-66680000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:66675600-66680000	Weak transcription	Thymus	Thymus
5	chr12:66676600-66681400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:66676800-66680000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:66676800-66681600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:66677000-66678400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:66677000-66678600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:66677000-66681400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:66677200-66681600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:66678000-66679000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:66678000-66679200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:66678200-66679000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:66678200-66684400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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