Variant report

Variant	rs17244587
Chromosome Location	chr17:45823035-45823036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45811931..45814457-chr17:45821701..45824432,2	MCF-7	breast:
2	chr17:45813787..45815804-chr17:45822257..45825163,2	MCF-7	breast:
3	chr17:45819448..45824573-chr17:45826000..45830135,4	K562	blood:
4	chr17:45822955..45824573-chr17:45826064..45828065,2	K562	blood:
5	chr17:45794462..45797278-chr17:45822164..45823820,2	MCF-7	breast:
6	chr17:45762090..45764390-chr17:45820597..45823079,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10445375	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs11079791	1.00[CHB][hapmap]
rs11655336	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs12451815	0.87[CHD][hapmap]
rs12721470	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12950390	0.88[CHD][hapmap]
rs16946264	0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17699436	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2325717	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875720	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41515744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56336232	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57570362	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58606102	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58805251	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60156897	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648870	0.96[ASN][1000 genomes]
rs72648872	0.96[ASN][1000 genomes]
rs72667004	0.96[ASN][1000 genomes]
rs72831648	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831650	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831652	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831653	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831657	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831659	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342955	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076180	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076527	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8077085	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8080756	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8081095	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17244587	COASY	cis	cerebellum	SCAN
rs17244587	TSPAN2	trans	cerebellum	SCAN
rs17244587	DHX58	cis	parietal	SCAN
rs17244587	SOST	cis	cerebellum	SCAN
rs17244587	KRT37	cis	parietal	SCAN
rs17244587	DHX8	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45819200-45824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:45820400-45824000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:45820600-45823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:45820600-45823800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:45820600-45826200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:45820600-45830400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:45821200-45823800	Enhancers	Dnd41	blood
8	chr17:45821600-45823800	Enhancers	K562	blood
9	chr17:45821600-45824400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:45821800-45823400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45821800-45823600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:45821800-45823600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:45822000-45823400	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:45822000-45823600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr17:45822400-45823200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45822400-45823200	Enhancers	Fetal Heart	heart
17	chr17:45822800-45823400	Strong transcription	GM12878-XiMat	blood
18	chr17:45822800-45823800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:45822800-45825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:45822800-45825200	Weak transcription	Spleen	Spleen
21	chr17:45823000-45823200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr17:45823000-45825800	Strong transcription	Primary T cells fromperipheralblood	blood

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