Variant report

Variant	rs1454618
Chromosome Location	chr8:126611354-126611355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126610315..126613289-chr8:126653712..126655623,2	MCF-7	breast:
2	chr8:126608438..126611381-chr8:126617335..126619462,2	K562	blood:
3	chr8:126606627..126608562-chr8:126611107..126612785,3	MCF-7	breast:
4	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
5	chr8:126610481..126612816-chr8:126612922..126614971,2	MCF-7	breast:
6	chr8:126458069..126459913-chr8:126608765..126611679,2	MCF-7	breast:
7	chr8:126290887..126293286-chr8:126610271..126611815,2	K562	blood:
8	chr8:126593622..126595846-chr8:126610575..126612204,2	MCF-7	breast:
9	chr8:126442729..126444290-chr8:126611048..126613106,2	MCF-7	breast:
10	chr8:126610735..126612592-chr8:126617138..126620158,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10110589	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1015109	0.81[CEU][hapmap]
rs11988437	0.81[CEU][hapmap]
rs11991475	0.85[CEU][hapmap]
rs11998450	0.85[CEU][hapmap]
rs13255329	0.86[ASW][hapmap];0.81[CEU][hapmap]
rs13265324	0.85[CEU][hapmap]
rs13269369	0.81[CEU][hapmap]
rs1454617	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124038	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870947	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821956	0.81[CEU][hapmap]

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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1454618	PTPRG	trans	lymphoblastoid	seeQTL
rs1454618	DERL1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126606600-126613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126606800-126612800	Weak transcription	Spleen	Spleen
3	chr8:126606800-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:126606800-126614800	Weak transcription	Osteobl	bone
5	chr8:126607800-126614000	Weak transcription	Hela-S3	cervix
6	chr8:126607800-126614600	Weak transcription	A549	lung
7	chr8:126608200-126613400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:126608400-126612200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:126608400-126613200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:126608400-126613600	Weak transcription	Pancreas	Pancrea
11	chr8:126608400-126618400	Weak transcription	Colonic Mucosa	Colon
12	chr8:126608600-126613400	Weak transcription	Placenta	Placenta
13	chr8:126608600-126613600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
15	chr8:126608800-126611800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:126608800-126613400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:126608800-126617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:126609000-126612600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:126609400-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:126609600-126613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
22	chr8:126610800-126611800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:126610800-126613600	Weak transcription	NHEK	skin
24	chr8:126611200-126614000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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