Variant report

Variant	rs242283
Chromosome Location	chr6:88030931-88030932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr6:88030482-88031160	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88030655..88033234-chr6:88038071..88039593,2	MCF-7	breast:
2	chr6:88003084..88004610-chr6:88029635..88031151,2	K562	blood:

Variant related genes	Relation type
SMIM8	TF binding region
ENSG00000226524	TF binding region
ENSG00000164411	Chromatin interaction

Extended variants
information (count: 193 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:193)

rs_ID	r²[population]
rs107689	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs107690	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1080595	0.82[EUR][1000 genomes]
rs1080596	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1201409	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12176253	0.94[ASN][1000 genomes]
rs12190280	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12207825	0.80[EUR][1000 genomes]
rs12664578	0.83[EUR][1000 genomes]
rs173333	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1753153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1753154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1813847	0.83[EUR][1000 genomes]
rs1813848	0.83[EUR][1000 genomes]
rs183599	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1886751	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1886752	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1925688	0.83[EUR][1000 genomes]
rs1925689	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1925695	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1980790	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1980792	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1998765	0.82[EUR][1000 genomes]
rs2025630	0.83[EUR][1000 genomes]
rs2031518	0.82[EUR][1000 genomes]
rs2031519	0.82[EUR][1000 genomes]
rs2147917	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2147918	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2147919	0.82[EUR][1000 genomes]
rs2147920	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2147921	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2182181	0.82[EUR][1000 genomes]
rs2240459	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240460	0.92[ASN][1000 genomes]
rs242267	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242270	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242278	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242279	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242280	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242281	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242285	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs242286	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs242287	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2474349	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2985039	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs367353	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs369674	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3734187	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs373646	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs376633	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812130	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3812132	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs381782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3846773	0.92[ASN][1000 genomes]
rs3846774	0.92[ASN][1000 genomes]
rs3846775	0.92[ASN][1000 genomes]
rs3846776	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3857483	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3857484	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs3857485	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3857488	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs390272	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3903920	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3904088	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs395358	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4099964	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4110984	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4110985	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4269346	0.81[EUR][1000 genomes]
rs4391234	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs445434	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs446851	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs447077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs448580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4489129	0.81[EUR][1000 genomes]
rs451089	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs451465	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs451829	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4540237	0.80[EUR][1000 genomes]
rs4591818	0.92[ASN][1000 genomes]
rs4605853	0.90[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs4706289	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4707346	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4707347	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4707348	0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4707351	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4707352	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4707356	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4707357	0.94[ASN][1000 genomes]
rs4707358	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs586771	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59322	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6454581	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6454584	0.81[EUR][1000 genomes]
rs6454587	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6454588	0.82[EUR][1000 genomes]
rs6454591	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6454592	0.83[EUR][1000 genomes]
rs6454593	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6454594	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6454595	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6454596	0.94[ASN][1000 genomes]
rs6454597	0.93[ASN][1000 genomes]
rs6454598	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6454599	0.94[ASN][1000 genomes]
rs6454600	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6899394	0.94[ASN][1000 genomes]
rs6903219	0.89[CEU][hapmap];0.91[CHB][hapmap];0.80[EUR][1000 genomes]
rs6904310	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6907805	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6909021	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6909200	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6910991	0.92[ASN][1000 genomes]
rs6913721	0.82[EUR][1000 genomes]
rs6913932	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6914193	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6916994	0.94[ASN][1000 genomes]
rs6917432	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6921007	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6921504	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6921619	0.83[EUR][1000 genomes]
rs6925648	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6926831	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6927748	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6929920	0.82[EUR][1000 genomes]
rs6932678	0.92[ASN][1000 genomes]
rs6933046	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6934603	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6934717	0.82[EUR][1000 genomes]
rs6937874	0.94[ASN][1000 genomes]
rs6940544	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7453986	0.94[ASN][1000 genomes]
rs7739034	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7739726	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7742478	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7742710	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7746545	0.81[EUR][1000 genomes]
rs7748191	0.82[EUR][1000 genomes]
rs7751029	0.82[EUR][1000 genomes]
rs7752485	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7752882	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7753030	0.94[ASN][1000 genomes]
rs7755244	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7755883	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7757199	0.83[EUR][1000 genomes]
rs7757827	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7758618	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7763365	0.83[EUR][1000 genomes]
rs7766324	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7767449	0.83[EUR][1000 genomes]
rs7768575	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7774603	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7776407	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs910563	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9294367	0.83[EUR][1000 genomes]
rs9294370	0.81[EUR][1000 genomes]
rs9294371	0.80[EUR][1000 genomes]
rs9294372	0.83[EUR][1000 genomes]
rs9344676	0.90[CEU][hapmap];0.87[CHB][hapmap];0.96[JPT][hapmap]
rs9344677	0.80[EUR][1000 genomes]
rs9344690	0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs9344691	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9344693	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9344695	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9344696	0.94[ASN][1000 genomes]
rs9344697	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9351117	0.90[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs9351124	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9353450	0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs9353456	0.82[EUR][1000 genomes]
rs9353462	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9353463	0.83[EUR][1000 genomes]
rs9353464	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9353465	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9353466	0.84[ASN][1000 genomes]
rs9353468	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9353473	0.94[ASN][1000 genomes]
rs9353483	0.80[EUR][1000 genomes]
rs9359736	0.80[EUR][1000 genomes]
rs9359743	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9359748	0.92[CEU][hapmap];0.91[CHB][hapmap];0.80[EUR][1000 genomes]
rs9362398	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs9362408	0.83[EUR][1000 genomes]
rs9362411	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9362413	0.84[ASN][1000 genomes]
rs9362415	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9362417	0.94[ASN][1000 genomes]
rs9444479	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9450634	0.80[EUR][1000 genomes]
rs9450647	0.94[ASN][1000 genomes]
rs9450650	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9450652	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs994170	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs242283	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs242283	C6orf164	cis	Skin Sun Exposed Lower leg	GTEx
rs242283	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs242283	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs242283	ZNF292	cis	Lymphoblastoid	GTEx
rs242283	C6orf164	cis	Whole Blood	GTEx
rs242283	C6orf164	cis	Thyroid	GTEx
rs242283	Hs.485895	cis	multi-tissue	Pritchard
rs242283	SLC35A1	cis	multi-tissue	Pritchard

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88024200-88031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:88030200-88031800	Weak transcription	Placenta	Placenta
3	chr6:88030200-88031800	Enhancers	K562	blood

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