Variant report

Variant	rs8109313
Chromosome Location	chr19:44538837-44538838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44533100..44535646-chr19:44537417..44539730,2	K562	blood:
2	chr19:44528545..44530793-chr19:44535583..44538948,4	K562	blood:
3	chr19:44528707..44530793-chr19:44537419..44538948,2	K562	blood:
4	chr19:44537819..44540662-chr19:44542616..44544259,2	K562	blood:
5	chr19:44532064..44534600-chr19:44536249..44538917,3	K562	blood:
6	chr19:44535729..44539292-chr19:44539752..44542558,4	K562	blood:

Variant related genes	Relation type
ENSG00000267144	Chromatin interaction
ENSG00000159885	Chromatin interaction
ENSG00000267022	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11083734	0.88[ASN][1000 genomes]
rs11083735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083736	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11083737	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11666432	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12610472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1474061	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1996409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138823	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2138824	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2176431	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284243	1.00[YRI][hapmap]
rs2356537	1.00[YRI][hapmap]
rs35120085	0.83[ASN][1000 genomes]
rs382197	0.86[EUR][1000 genomes]
rs3826941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4239528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs427608	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4299256	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4371266	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4375771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4444434	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451388	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs454904	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4550576	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4555257	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4580302	0.82[ASN][1000 genomes]
rs4803668	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803672	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803674	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55798868	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56003307	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56230322	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56250154	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57895932	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115491	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62119177	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509135	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6509139	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7251015	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7252213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255192	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257809	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8105003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646633	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs8109313	ZNF223	cis	Esophagus Mucosa	GTEx
rs8109313	ZNF223	cis	Nerve Tibial	GTEx
rs8109313	HIF3A	cis	parietal	SCAN
rs8109313	SPHK2	cis	parietal	SCAN
rs8109313	ZNF223	cis	Thyroid	GTEx
rs8109313	ZNF613	cis	parietal	SCAN
rs8109313	ZNF284	cis	lymphoblastoid	seeQTL
rs8109313	FUT2	cis	parietal	SCAN
rs8109313	KPTN	cis	parietal	SCAN
rs8109313	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs8109313	OPA3	cis	parietal	SCAN
rs8109313	ETFB	cis	parietal	SCAN
rs8109313	EMP3	cis	parietal	SCAN
rs8109313	ASPDH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44530800-44539200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
2	chr19:44530800-44539600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:44530800-44542600	ZNF genes & repeats	Liver	Liver
4	chr19:44531000-44539400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44531000-44540000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:44532200-44539800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:44533600-44539200	Weak transcription	HepG2	liver
8	chr19:44534400-44539400	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr19:44534600-44539400	ZNF genes & repeats	Brain Hippocampus Middle	brain
10	chr19:44536800-44540400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:44537000-44540200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:44537400-44539000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:44538200-44540000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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