Variant report

Variant	rs62527225
Chromosome Location	chr8:86163863-86163864
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	chr8:86156869..86159520-chr8:86162595..86165209,2	K562	blood:
2	chr8:86156144..86157901-chr8:86162540..86165209,2	K562	blood:

Variant related genes	Relation type
ENSG00000185015	Chromatin interaction
ENSG00000258256	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090196	0.94[ASN][1000 genomes]
rs1014303	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11261472	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11989660	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12114575	0.81[ASN][1000 genomes]
rs12546106	0.81[ASN][1000 genomes]
rs1303806	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1303807	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13259399	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1390711	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1553015	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16913721	0.91[ASN][1000 genomes]
rs1995056	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2278459	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2403104	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28564613	0.82[ASN][1000 genomes]
rs28677919	0.96[ASN][1000 genomes]
rs2896452	0.81[AMR][1000 genomes]
rs2896453	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35285802	0.82[ASN][1000 genomes]
rs3808538	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4150942	0.85[ASN][1000 genomes]
rs4739700	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4739702	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4740044	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4740045	0.82[ASN][1000 genomes]
rs4740048	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4740049	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67573812	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6987641	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990449	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6990452	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6993387	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6994113	0.82[ASN][1000 genomes]
rs7004871	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7011001	0.82[ASN][1000 genomes]
rs7011926	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7818163	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821629	0.80[ASN][1000 genomes]
rs7833737	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7835303	0.81[ASN][1000 genomes]
rs7835882	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7837275	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs903896	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs903897	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	esv2761441	chr8:86155592-86167129	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62527225	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs62527225	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86172600	Weak transcription	Left Ventricle	heart
2	chr8:86158400-86174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:86158400-86178200	Weak transcription	Small Intestine	intestine
4	chr8:86158400-86178200	Weak transcription	Stomach Mucosa	stomach
5	chr8:86158400-86179400	Weak transcription	Gastric	stomach
6	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:86158400-86185800	Weak transcription	Lung	lung
8	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
10	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
11	chr8:86158800-86167000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:86158800-86167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:86158800-86171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:86158800-86171200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:86158800-86172400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:86158800-86179400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
19	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:86159000-86166600	Weak transcription	NHEK	skin
23	chr8:86159000-86171200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:86159600-86167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:86160000-86169200	Weak transcription	Fetal Lung	lung
26	chr8:86160000-86172600	Weak transcription	HepG2	liver
27	chr8:86161200-86171200	Weak transcription	Primary B cells from cord blood	blood
28	chr8:86162400-86166600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:86162600-86171600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:86163200-86168200	Strong transcription	Fetal Intestine Small	intestine

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