Variant report

Variant	rs1010823
Chromosome Location	chr9:95525672-95525673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95490365..95492955-chr9:95524565..95526650,2	K562	blood:
2	chr9:95428069..95433526-chr9:95524054..95531235,7	MCF-7	breast:
3	chr9:95432219..95434684-chr9:95525652..95527897,3	K562	blood:
4	chr9:95430814..95434525-chr9:95525652..95528883,5	K562	blood:

Variant related genes	Relation type
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10821000	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10821001	0.83[ASN][1000 genomes]
rs10821002	0.95[AMR][1000 genomes];0.97[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	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821009	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821010	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821011	0.85[ASN][1000 genomes]
rs10821012	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821014	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10821015	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821016	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992402	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10992403	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10992404	0.80[EUR][1000 genomes]
rs10992406	0.80[EUR][1000 genomes]
rs10992413	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[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	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10992419	0.95[AMR][1000 genomes];0.97[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	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992427	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992430	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992431	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992432	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992433	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10992434	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992436	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992437	0.85[ASN][1000 genomes]
rs10992438	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992441	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992442	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992443	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992444	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992445	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992448	0.84[ASN][1000 genomes]
rs10992451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992453	0.85[ASN][1000 genomes]
rs10992454	0.83[AFR][1000 genomes]
rs10992456	0.96[AFR][1000 genomes];1.00[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	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992469	0.82[AMR][1000 genomes]
rs10992472	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1125063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11533010	0.83[ASN][1000 genomes]
rs11535540	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12236393	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12236516	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236747	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236754	0.85[ASN][1000 genomes]
rs12236788	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12237216	0.80[EUR][1000 genomes]
rs12238691	0.84[ASN][1000 genomes]
rs12683839	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12683944	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12684587	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12685080	0.89[ASN][1000 genomes]
rs12685256	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685257	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685358	0.83[ASN][1000 genomes]
rs12685780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686058	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407944	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552908	0.88[AMR][1000 genomes]
rs1555574	0.82[AMR][1000 genomes]
rs1874128	0.84[AMR][1000 genomes]
rs1980705	0.83[AMR][1000 genomes]
rs2038686	0.84[AMR][1000 genomes]
rs2181584	0.83[ASN][1000 genomes]
rs2181586	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274413	0.84[AMR][1000 genomes]
rs2277164	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277166	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2281888	0.83[AMR][1000 genomes]
rs2296080	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3203916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739605	0.82[ASN][1000 genomes]
rs41266683	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4545157	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56111209	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56203846	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56311406	0.85[ASN][1000 genomes]
rs56339669	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57421019	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57720404	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737182	0.85[ASN][1000 genomes]
rs58045868	0.81[AMR][1000 genomes]
rs58952648	0.82[ASN][1000 genomes]
rs60173654	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60457563	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60498616	0.84[ASN][1000 genomes]
rs66493272	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68022962	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68046436	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031163	0.85[ASN][1000 genomes]
rs7037961	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs753802	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753803	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753804	0.85[ASN][1000 genomes]
rs7850871	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7851947	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7860628	0.83[ASN][1000 genomes]
rs7862106	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7863890	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7864889	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7869529	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7869603	0.84[ASN][1000 genomes]
rs7871537	0.82[AMR][1000 genomes]
rs7875227	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181065	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878610	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879812	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs912259	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912261	0.80[EUR][1000 genomes]
rs976320	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976321	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9775970	0.87[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
rs1010823	BICD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95520400-95526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:95521800-95525800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:95521800-95525800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr9:95521800-95526000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr9:95523000-95526400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:95523000-95526400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:95523400-95525800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:95523800-95525800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:95523800-95526200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr9:95524000-95525800	Enhancers	Small Intestine	intestine
11	chr9:95524000-95526200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr9:95524200-95526400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr9:95524400-95526000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr9:95524600-95525800	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr9:95524600-95526000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:95524600-95526000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:95524600-95526200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr9:95524600-95526200	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr9:95524600-95526400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:95524600-95526400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr9:95524800-95525800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:95524800-95526000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:95524800-95526000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr9:95524800-95526000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:95524800-95526000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr9:95524800-95526000	Flanking Active TSS	GM12878-XiMat	blood
27	chr9:95524800-95526200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:95524800-95526200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr9:95524800-95526200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr9:95524800-95526200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:95524800-95526200	Flanking Active TSS	Esophagus	oesophagus
32	chr9:95524800-95526200	Flanking Active TSS	Dnd41	blood
33	chr9:95524800-95526200	Flanking Active TSS	HMEC	breast
34	chr9:95524800-95526200	Flanking Active TSS	K562	blood
35	chr9:95524800-95526400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr9:95524800-95526400	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr9:95524800-95526400	Flanking Active TSS	Fetal Brain Female	brain
38	chr9:95524800-95526400	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr9:95524800-95526600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr9:95524800-95526600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:95525000-95525800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr9:95525000-95525800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:95525000-95525800	Enhancers	Aorta	Aorta
44	chr9:95525000-95525800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:95525000-95525800	Flanking Active TSS	Thymus	Thymus
46	chr9:95525000-95526000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr9:95525000-95526000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:95525000-95526000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:95525000-95526000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr9:95525000-95526000	Flanking Active TSS	HepG2	liver

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