Variant report

Variant	rs7388458
Chromosome Location	chr8:9409246-9409247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr8:9408075-9410039	K562	blood:	n/a	chr8:9408739-9408749 chr8:9408551-9408560
2	CEBPB	chr8:9408675-9409320	K562	blood:	n/a	chr8:9409219-9409236
3	CEBPB	chr8:9408697-9409260	Hela-S3	cervix:	n/a	chr8:9409219-9409236

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9408610..9410364-chr8:9497260..9500179,3	K562	blood:
2	chr8:9408610..9410129-chr8:9497260..9499270,2	K562	blood:

Variant related genes	Relation type
TNKS	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10089150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094356	1.00[EUR][1000 genomes]
rs10098965	1.00[EUR][1000 genomes]
rs10101221	1.00[EUR][1000 genomes]
rs10101642	1.00[EUR][1000 genomes]
rs10102866	1.00[EUR][1000 genomes]
rs10104208	1.00[EUR][1000 genomes]
rs10109453	1.00[EUR][1000 genomes]
rs1026484	1.00[YRI][hapmap]
rs11249921	1.00[EUR][1000 genomes]
rs13260490	1.00[EUR][1000 genomes]
rs1458941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17150077	1.00[EUR][1000 genomes]
rs17155390	1.00[EUR][1000 genomes]
rs2409572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28452227	1.00[EUR][1000 genomes]
rs28479025	1.00[EUR][1000 genomes]
rs28523514	1.00[EUR][1000 genomes]
rs28635251	1.00[EUR][1000 genomes]
rs2898215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34625531	1.00[EUR][1000 genomes]
rs4342598	1.00[EUR][1000 genomes]
rs4599815	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55670933	1.00[EUR][1000 genomes]
rs55729276	1.00[EUR][1000 genomes]
rs55870346	1.00[EUR][1000 genomes]
rs55893352	1.00[EUR][1000 genomes]
rs56188005	1.00[EUR][1000 genomes]
rs56326922	1.00[EUR][1000 genomes]
rs56411177	1.00[EUR][1000 genomes]
rs56784931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56951452	1.00[EUR][1000 genomes]
rs57026077	1.00[EUR][1000 genomes]
rs57027206	1.00[EUR][1000 genomes]
rs57409491	1.00[AMR][1000 genomes]
rs57673085	1.00[EUR][1000 genomes]
rs58165072	1.00[EUR][1000 genomes]
rs58361831	1.00[EUR][1000 genomes]
rs58766098	1.00[EUR][1000 genomes]
rs58868633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400423	1.00[EUR][1000 genomes]
rs59517107	1.00[EUR][1000 genomes]
rs59815980	1.00[EUR][1000 genomes]
rs60035611	1.00[EUR][1000 genomes]
rs60044335	1.00[EUR][1000 genomes]
rs60206878	1.00[EUR][1000 genomes]
rs60338966	1.00[EUR][1000 genomes]
rs60862678	1.00[EUR][1000 genomes]
rs61515500	1.00[EUR][1000 genomes]
rs6601310	1.00[AMR][1000 genomes]
rs6601329	0.89[AFR][1000 genomes]
rs6993310	1.00[AMR][1000 genomes]
rs7002894	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73523206	1.00[EUR][1000 genomes]
rs73523216	1.00[EUR][1000 genomes]
rs73523232	1.00[EUR][1000 genomes]
rs73524874	1.00[EUR][1000 genomes]
rs73524875	1.00[EUR][1000 genomes]
rs73526914	1.00[EUR][1000 genomes]
rs73526934	1.00[EUR][1000 genomes]
rs73526939	1.00[EUR][1000 genomes]
rs73526944	1.00[EUR][1000 genomes]
rs73526947	1.00[EUR][1000 genomes]
rs73526950	1.00[EUR][1000 genomes]
rs73526954	1.00[EUR][1000 genomes]
rs73529194	1.00[EUR][1000 genomes]
rs73529199	1.00[EUR][1000 genomes]
rs73531222	1.00[EUR][1000 genomes]
rs73531224	1.00[EUR][1000 genomes]
rs73531227	1.00[EUR][1000 genomes]
rs73531236	1.00[EUR][1000 genomes]
rs73531638	1.00[EUR][1000 genomes]
rs73531644	1.00[EUR][1000 genomes]
rs73531647	1.00[EUR][1000 genomes]
rs73533809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73535829	1.00[EUR][1000 genomes]
rs73535847	1.00[EUR][1000 genomes]
rs73537913	1.00[EUR][1000 genomes]
rs73537918	1.00[EUR][1000 genomes]
rs73537929	1.00[EUR][1000 genomes]
rs73537933	1.00[EUR][1000 genomes]
rs73537946	1.00[EUR][1000 genomes]
rs73537997	1.00[EUR][1000 genomes]
rs73539914	1.00[EUR][1000 genomes]
rs73539916	1.00[EUR][1000 genomes]
rs73539923	1.00[EUR][1000 genomes]
rs73539929	1.00[EUR][1000 genomes]
rs73664743	1.00[EUR][1000 genomes]
rs73664756	1.00[EUR][1000 genomes]
rs73664772	1.00[EUR][1000 genomes]
rs73664774	1.00[EUR][1000 genomes]
rs73664775	1.00[EUR][1000 genomes]
rs73664780	1.00[EUR][1000 genomes]
rs73664783	1.00[EUR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7388458	RGS17	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9390000-9409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:9404000-9412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:9404800-9412800	Weak transcription	Right Atrium	heart
4	chr8:9407800-9412200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:9408400-9410000	Enhancers	K562	blood
6	chr8:9408600-9410400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:9408800-9409400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:9408800-9409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:9408800-9409600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:9408800-9409600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:9408800-9410200	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:9409000-9412200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:9409200-9409400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr8:9409200-9410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:9409200-9410200	Enhancers	Osteobl	bone
16	chr8:9409200-9410400	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:9409200-9410400	Enhancers	GM12878-XiMat	blood

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