Variant report

Variant	rs7013987
Chromosome Location	chr8:90872983-90872984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90871125..90874218-chr8:90995397..90997116,3	MCF-7	breast:
2	chr8:90867270..90880457-chr8:90913050..90918593,18	MCF-7	breast:
3	chr8:90864006..90868898-chr8:90869518..90873802,5	K562	blood:
4	chr8:90869160..90871090-chr8:90871381..90873801,2	MCF-7	breast:
5	chr8:90864006..90868898-chr8:90869518..90873896,4	K562	blood:
6	chr8:90868769..90874649-chr8:90891359..90894975,5	MCF-7	breast:
7	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10094579	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs10096271	0.98[ASN][1000 genomes]
rs11785163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155807	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12675822	0.86[AFR][1000 genomes]
rs12680009	0.86[AFR][1000 genomes]
rs13260987	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278954	0.94[ASN][1000 genomes]
rs16900888	0.87[CEU][hapmap]
rs16901016	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2338883	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28766093	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2879287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34525502	0.93[ASN][1000 genomes]
rs34642426	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34699769	0.93[ASN][1000 genomes]
rs35183880	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs365871	0.81[ASN][1000 genomes]
rs386857	0.81[ASN][1000 genomes]
rs398959	0.80[ASN][1000 genomes]
rs400571	0.81[ASN][1000 genomes]
rs410577	0.81[ASN][1000 genomes]
rs6984540	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7015630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7013987	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90866600-90873400	Enhancers	HSMMtube	muscle
2	chr8:90869200-90873800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:90870000-90874200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:90871000-90874400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:90871200-90873800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:90871600-90874200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:90872000-90874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:90872200-90874000	Weak transcription	A549	lung
9	chr8:90872800-90873000	Enhancers	Adipose Nuclei	Adipose
10	chr8:90872800-90873000	Enhancers	Fetal Muscle Leg	muscle
11	chr8:90872800-90873000	Enhancers	Ovary	ovary

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