Variant report

Variant	rs7089656
Chromosome Location	chr10:22284140-22284141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22282893..22284400-chr10:22332021..22333648,2	K562	blood:
2	chr10:22282739..22285751-chr10:22603796..22605945,3	MCF-7	breast:
3	chr10:22283124..22285962-chr10:23343209..23346203,2	K562	blood:
4	chr10:22280074..22284667-chr10:22609390..22612962,4	MCF-7	breast:
5	chr10:22282518..22284772-chr10:22539596..22541892,2	MCF-7	breast:
6	chr10:22281410..22284403-chr10:22290388..22292569,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269897	Chromatin interaction
ENSG00000148444	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000136770	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10508639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs10764328	0.89[MEX][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10764330	0.95[CEU][hapmap];0.96[GIH][hapmap]
rs10828266	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap]
rs10828283	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1086899	0.85[CEU][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs11012794	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap]
rs12571634	0.89[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2066270	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs2066271	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs2457954	0.83[CEU][hapmap]
rs2487512	0.85[CEU][hapmap]
rs2666750	0.85[CEU][hapmap]
rs2666754	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666757	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666759	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2666760	0.81[CEU][hapmap]
rs2666761	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2666768	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666769	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs2666771	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs2666772	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666775	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666776	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666779	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs2666782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2807966	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807967	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2807968	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807977	1.00[CHB][hapmap]
rs2807978	0.85[CEU][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs2807979	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807982	0.80[CEU][hapmap]
rs2807983	0.85[CEU][hapmap]
rs2807984	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807985	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807986	0.95[CEU][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807987	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807988	0.81[CEU][hapmap]
rs2859622	0.90[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2941732	0.82[EUR][1000 genomes]
rs2941733	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2986336	1.00[CHB][hapmap]
rs2998360	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2998361	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4024198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap]
rs4146689	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304660	0.87[YRI][hapmap]
rs4364959	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4748775	0.89[CEU][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4748776	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748777	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4748778	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4748779	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6482190	0.86[ASN][1000 genomes]
rs6650129	0.81[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs6650130	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs7082663	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs7904395	0.80[EUR][1000 genomes]
rs792453	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs792454	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792455	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs792456	0.84[CEU][hapmap]
rs806774	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1048924	chr10:22177164-22296409	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831808	chr10:22187850-22357814	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7089656	PSTPIP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22264600-22286000	Weak transcription	Gastric	stomach
2	chr10:22267600-22284400	Weak transcription	Osteobl	bone
3	chr10:22275600-22290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:22276600-22291000	Weak transcription	Brain Anterior Caudate	brain
5	chr10:22278600-22284600	Weak transcription	GM12878-XiMat	blood
6	chr10:22278600-22289200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:22278600-22291000	Weak transcription	Right Atrium	heart
8	chr10:22278800-22284200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:22278800-22284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:22278800-22284200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:22278800-22291000	Weak transcription	Brain Angular Gyrus	brain
12	chr10:22278800-22291200	Weak transcription	Left Ventricle	heart
13	chr10:22279000-22290000	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:22279400-22291000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:22280800-22284400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:22282400-22284400	Weak transcription	Liver	Liver
17	chr10:22282400-22284600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:22282400-22289200	Weak transcription	Pancreas	Pancrea
19	chr10:22282600-22290000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr10:22282600-22291000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:22282800-22289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:22284000-22284600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:22284000-22284800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:22284000-22285600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:22284000-22286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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