Variant report

Variant	rs4545157
Chromosome Location	chr9:95538100-95538101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95524574..95529988-chr9:95531032..95538459,18	K562	blood:
2	chr9:95532082..95533725-chr9:95537361..95539360,2	K562	blood:
3	chr9:95532566..95534480-chr9:95535486..95538375,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1010823	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821000	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10821001	0.83[ASN][1000 genomes]
rs10821002	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821003	0.83[ASN][1000 genomes]
rs10821004	0.83[ASN][1000 genomes]
rs10821005	0.82[ASN][1000 genomes]
rs10821007	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821009	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821010	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821011	0.85[ASN][1000 genomes]
rs10821012	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821014	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10821015	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821016	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992402	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10992403	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10992413	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992414	0.81[ASN][1000 genomes]
rs10992416	0.83[ASN][1000 genomes]
rs10992417	0.83[ASN][1000 genomes]
rs10992418	0.96[ASN][1000 genomes]
rs10992419	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992420	0.83[ASN][1000 genomes]
rs10992422	0.83[ASN][1000 genomes]
rs10992423	0.83[ASN][1000 genomes]
rs10992426	0.82[EUR][1000 genomes]
rs10992427	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992430	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992431	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992432	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992433	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10992434	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992436	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992437	0.85[ASN][1000 genomes]
rs10992438	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992441	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992442	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992443	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992444	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992445	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992448	0.84[ASN][1000 genomes]
rs10992451	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992453	0.85[ASN][1000 genomes]
rs10992454	0.87[AFR][1000 genomes]
rs10992456	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992460	0.85[ASN][1000 genomes]
rs10992461	0.85[ASN][1000 genomes]
rs10992462	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992469	0.83[AMR][1000 genomes]
rs10992472	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1125063	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125064	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11533010	0.83[ASN][1000 genomes]
rs11535540	0.96[ASN][1000 genomes]
rs12236393	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12236516	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236747	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236754	0.85[ASN][1000 genomes]
rs12236788	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12238691	0.84[ASN][1000 genomes]
rs12683839	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12683944	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12684587	0.85[ASN][1000 genomes]
rs12685080	0.89[ASN][1000 genomes]
rs12685256	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685257	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685358	0.83[ASN][1000 genomes]
rs12685780	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685791	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686058	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407944	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552908	0.85[AMR][1000 genomes]
rs1555574	0.83[AMR][1000 genomes]
rs1874128	0.81[AMR][1000 genomes]
rs2038686	0.81[AMR][1000 genomes]
rs2181584	0.83[ASN][1000 genomes]
rs2181586	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274413	0.81[AMR][1000 genomes]
rs2277164	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277166	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2296080	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3203916	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739605	0.82[ASN][1000 genomes]
rs41266683	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs556	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56111209	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56203846	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56311406	0.85[ASN][1000 genomes]
rs56339669	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57421019	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57720404	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737182	0.85[ASN][1000 genomes]
rs58952648	0.82[ASN][1000 genomes]
rs60173654	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60457563	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60498616	0.84[ASN][1000 genomes]
rs66493272	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68022962	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68046436	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031163	0.85[ASN][1000 genomes]
rs7037961	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs753802	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753803	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753804	0.85[ASN][1000 genomes]
rs7850871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7851947	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7860628	0.83[ASN][1000 genomes]
rs7862106	0.96[ASN][1000 genomes]
rs7863890	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7864889	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7869529	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7869603	0.84[ASN][1000 genomes]
rs7871537	0.83[AMR][1000 genomes]
rs7875227	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181065	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878610	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879812	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs912259	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976320	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976321	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9775970	0.80[AFR][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	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4545157	BICD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95533200-95541200	Weak transcription	Left Ventricle	heart
2	chr9:95533400-95541200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:95533400-95543200	Weak transcription	Esophagus	oesophagus
4	chr9:95536200-95538200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:95536600-95539000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:95537200-95543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:95537600-95538400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr9:95537600-95544000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:95537800-95538200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:95537800-95538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:95537800-95538200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr9:95537800-95538400	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:95537800-95538400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr9:95538000-95538200	Enhancers	Brain Anterior Caudate	brain
15	chr9:95538000-95538400	Active TSS	Primary B cells from cord blood	blood

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