Variant report

Variant	rs11676646
Chromosome Location	chr2:114585305-114585306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10172576	0.82[AFR][1000 genomes]
rs10185135	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10209659	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1028245	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11123214	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11675908	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11684182	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs11685296	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11685654	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs11691664	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs156705	0.90[JPT][hapmap]
rs17197632	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs35167892	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4241126	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4411702	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4571059	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4848353	0.81[AFR][1000 genomes]
rs4849285	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849286	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849287	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849288	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849291	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849294	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs57106417	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61050591	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62170155	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62170159	0.81[EUR][1000 genomes]
rs62171760	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62171761	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62171768	0.83[EUR][1000 genomes]
rs62171769	0.83[EUR][1000 genomes]
rs6542180	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs6642	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs72948684	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9646927	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11676646	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs11676646	DDX11L2	cis	Whole Blood	GTEx
rs11676646	RPL23AP7	cis	Artery Tibial	GTEx
rs11676646	SLC35F5	cis	Thyroid	GTEx
rs11676646	RPL23AP7	cis	Whole Blood	GTEx
rs11676646	RPL23AP7	cis	multi-tissue	Pritchard
rs11676646	MGC70863	trans	multi-tissue	Pritchard
rs11676646	CHCHD5	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114568200-114586000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:114574200-114603600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:114576400-114588400	Weak transcription	Esophagus	oesophagus
4	chr2:114580400-114588600	Weak transcription	K562	blood
5	chr2:114581800-114585400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:114582200-114586000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:114582400-114586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114584200-114585600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:114584600-114585600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:114584600-114585800	Enhancers	Fetal Intestine Small	intestine
11	chr2:114584600-114595600	Weak transcription	HepG2	liver
12	chr2:114584800-114592000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:114585000-114585800	Enhancers	HMEC	breast
14	chr2:114585200-114585600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:114585200-114585600	Enhancers	NHEK	skin
16	chr2:114585200-114585800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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