Variant report

Variant	rs3121439
Chromosome Location	chr6:107125940-107125941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:107071388..107073960-chr6:107125035..107126711,2	MCF-7	breast:
2	chr6:107120439..107122518-chr6:107125608..107127991,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1026619	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10457147	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153019	0.92[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11752776	0.93[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11759803	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11968474	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11968502	0.82[EUR][1000 genomes]
rs12212676	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12214412	0.93[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12216505	0.93[CEU][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13200233	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13202677	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13207581	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1986498	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054365	0.86[JPT][hapmap]
rs2169463	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3101493	0.89[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3101496	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3101499	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3104038	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3104046	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121434	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121435	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121436	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121437	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121438	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121441	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121442	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121444	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121445	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121448	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121449	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3127658	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640924	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404130	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs3121439	QRSL1	cis	uninvolved skin	skin_eQTL
rs3121439	QRSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs3121439	QRSL1	cis	Artery Tibial	GTEx
rs3121439	QRSL1	cis	Thyroid	GTEx
rs3121439	QRSL1	cis	lung	GTEx
rs3121439	QRSL1	cis	Heart Left Ventricle	GTEx
rs3121439	QRSL1	cis	lesional skin	skin_eQTL
rs3121439	QRSL1	cis	normal skin	skin_eQTL
rs3121439	QRSL1	cis	Esophagus Mucosa	GTEx
rs3121439	QRSL1	cis	Esophagus Muscularis	GTEx
rs3121439	QRSL1	cis	Nerve Tibial	GTEx
rs3121439	QRSL1	cis	Lymphoblastoid	GTEx
rs3121439	QRSL1	cis	multi-tissue	Pritchard
rs3121439	QRSL1	cis	Muscle Skeletal	GTEx
rs3121439	QRSL1	Cis_1M	lymphoblastoid	RTeQTL
rs3121439	QRSL1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107106600-107126200	Weak transcription	Psoas Muscle	Psoas
2	chr6:107117600-107130800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:107124800-107126200	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:107125000-107126000	Enhancers	Primary B cells from cord blood	blood
5	chr6:107125800-107126000	Enhancers	Small Intestine	intestine

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