Variant report

Variant	rs7825018
Chromosome Location	chr8:121654755-121654756
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:121654645-121654794	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000250290	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13268742	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469942	0.83[CHD][hapmap]
rs7464975	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820451	0.93[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7821110	0.93[ASW][hapmap];0.93[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7821158	0.83[CHD][hapmap]
rs7836771	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297623	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9772850	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6369	chr8:121654665-121699920	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7825018	UTP23	cis	parietal	SCAN
rs7825018	DERL1	cis	cerebellum	SCAN
rs7825018	COL14A1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
2	chr8:121628600-121673200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121644200-121666800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:121644800-121664400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:121644800-121664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121644800-121674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:121645000-121655200	Weak transcription	HSMM	muscle
8	chr8:121645000-121655200	Weak transcription	HSMMtube	muscle
9	chr8:121645000-121664400	Weak transcription	NHLF	lung
10	chr8:121645000-121666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:121645000-121673000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:121645200-121655000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:121645200-121655400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:121645200-121665200	Weak transcription	Primary B cells from cord blood	blood
15	chr8:121645400-121662400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:121645600-121662400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:121646400-121666800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:121653200-121656400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:121653200-121656400	Strong transcription	Liver	Liver
20	chr8:121653400-121654800	Enhancers	Hela-S3	cervix
21	chr8:121653400-121655400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:121653600-121654800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:121653600-121655400	Enhancers	Placenta	Placenta
24	chr8:121653600-121656400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121654000-121654800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:121654200-121655800	Strong transcription	HepG2	liver
27	chr8:121654400-121656800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:121654600-121655200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:121654600-121655200	Enhancers	Brain Germinal Matrix	brain

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