Variant report

Variant	rs6461976
Chromosome Location	chr7:26839660-26839661
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	chr7:26839409..26841289-chr7:26844837..26847761,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10085721	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237921	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10238253	0.82[ASN][1000 genomes]
rs10239608	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241952	0.82[ASN][1000 genomes]
rs10245162	0.82[ASN][1000 genomes]
rs10245367	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10246641	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10249824	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10250223	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10255249	0.81[ASN][1000 genomes]
rs10256561	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10256799	0.82[ASN][1000 genomes]
rs10261915	0.82[ASN][1000 genomes]
rs10269731	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10951149	0.82[ASN][1000 genomes]
rs1123157	0.82[ASN][1000 genomes]
rs1123158	0.82[ASN][1000 genomes]
rs11772673	0.82[EUR][1000 genomes]
rs12532339	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12535078	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13234201	0.82[EUR][1000 genomes]
rs13234336	0.82[EUR][1000 genomes]
rs2015543	0.82[EUR][1000 genomes]
rs2391360	0.82[ASN][1000 genomes]
rs28403911	0.82[ASN][1000 genomes]
rs3801835	0.94[EUR][1000 genomes]
rs3801846	0.84[ASN][1000 genomes]
rs3801847	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801848	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801853	0.82[ASN][1000 genomes]
rs3801854	0.82[ASN][1000 genomes]
rs3801855	0.82[ASN][1000 genomes]
rs3801868	0.81[ASN][1000 genomes]
rs3823939	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4345466	0.82[ASN][1000 genomes]
rs4512299	0.82[ASN][1000 genomes]
rs4722633	0.81[EUR][1000 genomes]
rs5012512	0.82[ASN][1000 genomes]
rs55836768	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55904994	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56359409	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6461971	0.82[ASN][1000 genomes]
rs6461973	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6461974	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6461975	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6944529	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965167	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73065526	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs744611	0.82[ASN][1000 genomes]
rs744612	0.82[ASN][1000 genomes]
rs7779604	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7779843	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7793663	0.82[ASN][1000 genomes]
rs7794399	0.81[ASN][1000 genomes]
rs7798696	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7799888	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802514	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7807640	0.82[ASN][1000 genomes]
rs7810109	0.82[EUR][1000 genomes]
rs7810127	0.82[EUR][1000 genomes]
rs891874	0.82[ASN][1000 genomes]
rs891875	0.82[ASN][1000 genomes]
rs891876	0.82[ASN][1000 genomes]
rs934410	0.82[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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv887855	chr7:26823963-26872652	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6461976	SKAP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26808000-26854800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:26812400-26849000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:26812800-26841600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:26813000-26871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:26821000-26843000	Weak transcription	Fetal Lung	lung
6	chr7:26823000-26846400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:26825400-26872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:26834600-26841600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26835400-26840200	Weak transcription	Right Atrium	heart
10	chr7:26836600-26846200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:26837400-26842800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:26839400-26842800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:26839400-26871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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