Variant report

Variant	rs9646927
Chromosome Location	chr2:114590106-114590107
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	chr2:114512943..114515625-chr2:114589095..114591354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10185135	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10209659	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1028245	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123214	0.82[EUR][1000 genomes]
rs11675908	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11676646	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11685296	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11691664	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35167892	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4241126	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4411702	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4571059	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4849285	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4849286	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4849287	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4849288	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4849289	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4849290	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4849291	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57106417	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61050591	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62170155	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62170159	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62171760	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62171761	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62171768	0.81[EUR][1000 genomes]
rs62171769	0.81[EUR][1000 genomes]
rs72948684	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs9646927	DDX11L2	cis	lung	GTEx
rs9646927	RPL23AP7	cis	Artery Aorta	GTEx
rs9646927	DDX11L2	cis	Heart Left Ventricle	GTEx
rs9646927	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs9646927	DDX11L2	cis	Whole Blood	GTEx
rs9646927	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs9646927	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs9646927	SLC35F5	cis	Thyroid	GTEx
rs9646927	RPL23AP7	cis	Whole Blood	GTEx
rs9646927	RPL23AP7	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 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	chr2:114584600-114595600	Weak transcription	HepG2	liver
3	chr2:114584800-114592000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:114586400-114591400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:114586400-114601000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:114587800-114590800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:114589000-114591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:114589200-114592000	Weak transcription	HMEC	breast
9	chr2:114589200-114596400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:114589200-114600200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:114589200-114600200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:114589200-114600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:114590000-114591200	Weak transcription	Placenta	Placenta

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