Variant report

Variant	rs10783856
Chromosome Location	chr12:58249243-58249244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58248124..58250440-chr12:58255143..58257360,2	K562	blood:
2	chr12:58247136..58249290-chr12:58333481..58336155,2	K562	blood:
3	chr12:58247895..58249624-chr12:58254924..58257360,2	K562	blood:

Variant related genes	Relation type
ENSG00000166896	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10444569	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10747784	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747786	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10747787	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10783850	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783851	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783854	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783855	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877022	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10877024	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10877025	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877026	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877028	0.95[CEU][hapmap]
rs10877029	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877030	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877031	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10877032	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11172361	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172362	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172367	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11172368	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11172369	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11172371	0.84[AMR][1000 genomes]
rs12312955	0.85[AMR][1000 genomes]
rs12319233	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12426201	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1599750	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1599751	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1599931	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1875125	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2002275	0.85[AMR][1000 genomes]
rs4237844	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4760171	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760172	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760332	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760333	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760335	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760339	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4760341	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5017863	0.90[AMR][1000 genomes]
rs59401446	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7134797	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7298479	0.86[EUR][1000 genomes]
rs7312623	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7489290	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7969844	0.81[ASN][1000 genomes]
rs870392	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs871871	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9645819	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs10783856	XRCC6BP1	cis	Heart Left Ventricle	GTEx
rs10783856	METTL21B	cis	Esophagus Muscularis	GTEx
rs10783856	FAM119B	cis	Temporal Cortex	GTEx
rs10783856	XRCC6BP1	cis	Esophagus Muscularis	GTEx
rs10783856	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs10783856	XRCC6BP1	cis	Artery Tibial	GTEx
rs10783856	XRCC6BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs10783856	XRCC6BP1	cis	Adipose Subcutaneous	GTEx
rs10783856	XRCC6BP1	Cis_1M	lymphoblastoid	RTeQTL
rs10783856	FAM119B	cis	Frontal Cortex	GTEx
rs10783856	XRCC6BP1	cis	lung	GTEx
rs10783856	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs10783856	XRCC6BP1	cis	Whole Blood	GTEx
rs10783856	XRCC6BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58243200-58250200	Weak transcription	K562	blood
2	chr12:58246800-58249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:58247200-58250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:58247600-58250000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:58247600-58255800	Weak transcription	Spleen	Spleen
6	chr12:58247800-58251600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:58247800-58257400	Weak transcription	Right Ventricle	heart
8	chr12:58248000-58249400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:58248000-58249400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:58248600-58249400	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:58248800-58257200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:58249000-58249600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:58249200-58249400	Enhancers	Thymus	Thymus
14	chr12:58249200-58257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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