Variant report

Variant	rs4849285
Chromosome Location	chr2:114587432-114587433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114586068..114588684-chr2:114646447..114649320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10185135	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10209659	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1028245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123214	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11675908	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676646	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11684182	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11685296	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685654	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11691664	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403401	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17197632	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs35167892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4241126	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4292100	0.88[AFR][1000 genomes]
rs4411702	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4571059	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849287	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849289	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4849290	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4849291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849294	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57106417	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61050591	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62170141	0.85[AFR][1000 genomes]
rs62170143	0.85[AFR][1000 genomes]
rs62170146	0.82[AFR][1000 genomes]
rs62170148	0.85[AFR][1000 genomes]
rs62170155	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62170159	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62171760	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62171761	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62171768	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62171769	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6542180	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6642	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs72835407	0.85[AFR][1000 genomes]
rs72835479	0.81[ASN][1000 genomes]
rs72948684	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7576537	0.81[ASN][1000 genomes]
rs7579001	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7605071	0.82[CHB][hapmap]
rs9646927	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4849285	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs4849285	DDX11L2	cis	Heart Left Ventricle	GTEx
rs4849285	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs4849285	RPL23AP7	cis	Whole Blood	GTEx
rs4849285	DDX11L2	cis	Whole Blood	GTEx
rs4849285	DDX11L2	cis	lung	GTEx
rs4849285	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs4849285	RPL23AP7	cis	Artery Aorta	GTEx
rs4849285	RPL23AP7	cis	Artery Tibial	GTEx
rs4849285	SLC35F5	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114574200-114603600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:114576400-114588400	Weak transcription	Esophagus	oesophagus
3	chr2:114580400-114588600	Weak transcription	K562	blood
4	chr2:114584600-114595600	Weak transcription	HepG2	liver
5	chr2:114584800-114592000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:114585600-114588400	Weak transcription	NHEK	skin
7	chr2:114585600-114588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:114585800-114588600	Weak transcription	HMEC	breast
9	chr2:114585800-114588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:114586000-114588400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:114586400-114591400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:114586400-114601000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:114586800-114587600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:114586800-114587800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:114587200-114587600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:114587400-114588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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