Variant report

Variant	rs7850871
Chromosome Location	chr9:95517299-95517300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95513914..95517972-chr9:95522627..95527202,5	K562	blood:

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1010823	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10821001	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10821002	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10821003	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10821004	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10821005	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10821007	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10821009	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10821010	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10821011	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10821012	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10821014	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10821015	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10821016	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10821017	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10992382	0.83[AMR][1000 genomes]
rs10992394	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10992396	0.84[ASN][1000 genomes]
rs10992404	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992406	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992407	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10992408	0.84[ASN][1000 genomes]
rs10992409	0.81[ASN][1000 genomes]
rs10992412	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10992413	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10992414	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10992416	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10992417	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10992418	0.82[ASN][1000 genomes]
rs10992419	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10992420	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10992422	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10992423	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10992426	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992427	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10992430	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992431	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992432	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10992433	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992434	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992436	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992437	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992438	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992441	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992442	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992443	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992444	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992445	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992448	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10992451	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992453	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992456	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992460	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992461	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992462	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992475	0.86[EUR][1000 genomes]
rs1117670	0.83[AMR][1000 genomes]
rs1125063	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1125064	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11533010	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11535540	0.82[ASN][1000 genomes]
rs12236393	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12236516	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12236747	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12236754	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12236788	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12237216	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12238691	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12683839	0.82[EUR][1000 genomes]
rs12683944	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12684076	0.89[ASN][1000 genomes]
rs12684587	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12685256	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12685257	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12685358	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12685780	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12685791	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12686058	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1407944	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1853427	0.86[EUR][1000 genomes]
rs2088055	0.87[AMR][1000 genomes]
rs2181584	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2181586	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277164	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296080	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3203916	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3739605	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4545157	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs556	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56111209	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56203846	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56311406	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56339669	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57421019	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57720404	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57737182	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58952648	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60173654	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60457563	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60498616	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6479426	0.83[AMR][1000 genomes]
rs66493272	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs68022962	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68046436	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7031163	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7037961	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618187	0.86[EUR][1000 genomes]
rs753802	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs753803	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs753804	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7851947	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7860628	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7862106	0.82[ASN][1000 genomes]
rs7863882	0.83[AMR][1000 genomes]
rs7869529	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7869603	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7875227	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8181065	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs878610	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs912259	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs912261	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs976320	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs976321	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9775970	0.94[AMR][1000 genomes];0.95[EUR][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
rs7850871	BICD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95503400-95518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:95503600-95517800	Weak transcription	Fetal Intestine Large	intestine
3	chr9:95503800-95523800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:95508000-95517800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:95508200-95517800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:95508200-95517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:95509600-95517800	Weak transcription	Thymus	Thymus
8	chr9:95509800-95522000	Weak transcription	Liver	Liver
9	chr9:95511000-95518000	Weak transcription	Hela-S3	cervix
10	chr9:95511800-95518000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:95511800-95518000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:95512000-95517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:95512000-95523400	Weak transcription	Aorta	Aorta
14	chr9:95512000-95525000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:95512200-95518000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:95512200-95521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:95512400-95517800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:95512400-95517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:95512400-95518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:95512400-95518000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:95512400-95518000	Weak transcription	Gastric	stomach
22	chr9:95512400-95521600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:95512400-95521600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:95512400-95522200	Weak transcription	NHDF-Ad	bronchial
25	chr9:95512400-95525200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:95512600-95518000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:95512600-95518000	Weak transcription	Fetal Lung	lung
28	chr9:95512600-95521600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:95512600-95521800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:95512600-95525400	Weak transcription	A549	lung
31	chr9:95512800-95518000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr9:95512800-95518200	Weak transcription	Brain Angular Gyrus	brain
33	chr9:95512800-95522200	Weak transcription	HSMM	muscle
34	chr9:95513000-95518200	Weak transcription	Brain Substantia Nigra	brain
35	chr9:95513000-95519200	Weak transcription	Brain Hippocampus Middle	brain
36	chr9:95513000-95519200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:95513000-95520000	Weak transcription	Brain Anterior Caudate	brain
38	chr9:95513000-95521800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:95513000-95522200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:95513000-95522400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:95513000-95522600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:95513600-95521600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr9:95513600-95521600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:95514000-95517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:95514000-95518000	Weak transcription	Brain Germinal Matrix	brain
46	chr9:95514000-95518000	Weak transcription	Ovary	ovary
47	chr9:95514400-95519400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr9:95515000-95517800	Weak transcription	Fetal Thymus	thymus
49	chr9:95515000-95521600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:95515200-95517800	Weak transcription	Esophagus	oesophagus

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