Variant report

Variant	rs2645051
Chromosome Location	chr8:86266339-86266340
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	chr8:86260251..86261829-chr8:86265124..86266765,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13255540	0.82[ASN][1000 genomes]
rs1389245	0.83[ASN][1000 genomes]
rs1389247	0.83[ASN][1000 genomes]
rs1472360	0.87[ASN][1000 genomes]
rs1496526	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1496527	0.82[EUR][1000 genomes]
rs1496529	0.83[ASN][1000 genomes]
rs2055077	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2403105	0.82[ASN][1000 genomes]
rs2453868	0.85[ASN][1000 genomes]
rs2548281	0.85[ASN][1000 genomes]
rs2645047	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2645049	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645053	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66498753	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs713488	0.83[ASN][1000 genomes]
rs713489	0.83[ASN][1000 genomes]
rs931505	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2645051	LRRCC1	cis	Esophagus Mucosa	GTEx
rs2645051	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs2645051	LRRCC1	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86262000-86266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:86264800-86266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:86264800-86266800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:86264800-86267000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:86265000-86266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:86265200-86283200	Weak transcription	Fetal Intestine Large	intestine
8	chr8:86265400-86266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:86265400-86266600	Weak transcription	HMEC	breast
10	chr8:86265400-86266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:86265400-86266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:86265400-86266800	Weak transcription	Fetal Lung	lung
13	chr8:86265400-86266800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:86265400-86267000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:86265400-86267000	Weak transcription	Right Atrium	heart
16	chr8:86265400-86267200	Weak transcription	Psoas Muscle	Psoas
17	chr8:86265400-86278000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:86265600-86266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:86265600-86266800	Weak transcription	NHEK	skin
20	chr8:86266200-86267600	Enhancers	Rectal Mucosa Donor 31	rectum

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