Variant report

Variant	rs11123214
Chromosome Location	chr2:114611860-114611861
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114605600..114609887-chr2:114610932..114615249,5	K562	blood:

Variant related genes	Relation type
ENSG00000239077	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10185135	0.85[EUR][1000 genomes]
rs10209659	0.85[EUR][1000 genomes]
rs1028245	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060906	1.00[JPT][hapmap]
rs11675908	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11676646	0.84[EUR][1000 genomes]
rs11684182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685296	0.90[ASN][1000 genomes]
rs11685654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691664	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1403401	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17197611	0.86[MKK][hapmap]
rs17197632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17269836	1.00[JPT][hapmap]
rs35167892	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4241126	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4411702	0.85[EUR][1000 genomes]
rs4571059	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849285	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849286	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849287	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849288	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849289	0.87[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs4849290	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs4849291	0.90[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849294	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849296	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57106417	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61050591	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62169889	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169929	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169935	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62170155	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62170159	0.86[ASN][1000 genomes]
rs62171760	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62171761	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62171768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62171769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72835479	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72948684	0.85[EUR][1000 genomes]
rs7576537	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7579001	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7605071	0.83[CHB][hapmap];0.90[MKK][hapmap]
rs9646927	0.82[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11123214	RPL23AP7	cis	Whole Blood	GTEx
rs11123214	CHCHD5	cis	cerebellum	SCAN
rs11123214	LOC440900	cis	multi-tissue	Pritchard
rs11123214	SLC35F5	cis	Thyroid	GTEx
rs11123214	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs11123214	RPL23AP7	cis	Artery Tibial	GTEx
rs11123214	RPL23AP7	cis	multi-tissue	Pritchard
rs11123214	DDX11L2	cis	Whole Blood	GTEx
rs11123214	MGC70863	trans	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596400-114621000	Weak transcription	Aorta	Aorta
2	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:114601400-114612000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:114602800-114626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:114603800-114616000	Weak transcription	Spleen	Spleen
7	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:114605400-114616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:114606200-114621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:114606600-114612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:114607000-114616200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:114607200-114612400	Weak transcription	GM12878-XiMat	blood
13	chr2:114607200-114615200	Weak transcription	Osteobl	bone
14	chr2:114607200-114615800	Weak transcription	HMEC	breast
15	chr2:114608400-114612400	Weak transcription	Thymus	Thymus
16	chr2:114608600-114612200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:114608600-114612400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:114608600-114615200	Weak transcription	Pancreas	Pancrea
19	chr2:114609400-114612200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:114609600-114612400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:114609600-114614600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:114610200-114614400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:114610400-114613400	Enhancers	Primary B cells from cord blood	blood
24	chr2:114611600-114623400	Enhancers	Primary B cells from peripheral blood	blood

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