Variant report

Variant	rs9916765
Chromosome Location	chr17:38005595-38005596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38004767..38008555-chr17:38017604..38021491,3	K562	blood:

Variant related genes	Relation type
ENSG00000161405	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1008723	0.81[ASN][1000 genomes]
rs1011082	0.82[ASN][1000 genomes]
rs1031458	0.82[ASN][1000 genomes]
rs1031460	0.82[ASN][1000 genomes]
rs11078925	0.87[ASN][1000 genomes]
rs11078926	0.82[ASN][1000 genomes]
rs11078927	0.82[ASN][1000 genomes]
rs11078928	0.82[ASN][1000 genomes]
rs11557466	0.87[ASN][1000 genomes]
rs11557467	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11650661	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11651596	0.81[ASN][1000 genomes]
rs11655198	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11655292	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11870965	0.82[ASN][1000 genomes]
rs12103884	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12709365	0.82[ASN][1000 genomes]
rs12936231	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12936409	0.81[ASN][1000 genomes]
rs12939832	0.81[ASN][1000 genomes]
rs12944882	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12949100	0.82[ASN][1000 genomes]
rs12950209	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12950743	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13380815	0.82[ASN][1000 genomes]
rs1453559	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2305479	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305480	0.82[ASN][1000 genomes]
rs2313430	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2941522	0.83[AMR][1000 genomes]
rs2952140	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2952144	0.81[EUR][1000 genomes]
rs34120102	0.82[ASN][1000 genomes]
rs36000226	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816470	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4795397	0.87[ASN][1000 genomes]
rs4795399	0.82[ASN][1000 genomes]
rs4795400	0.82[ASN][1000 genomes]
rs4795401	0.82[ASN][1000 genomes]
rs56380902	0.82[ASN][1000 genomes]
rs62067034	0.82[ASN][1000 genomes]
rs6503524	0.82[ASN][1000 genomes]
rs7216389	0.82[ASN][1000 genomes]
rs7216558	0.82[ASN][1000 genomes]
rs7219923	0.82[ASN][1000 genomes]
rs7221605	0.82[ASN][1000 genomes]
rs7359623	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8065777	0.82[ASN][1000 genomes]
rs8067378	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8069176	0.82[ASN][1000 genomes]
rs869402	0.82[ASN][1000 genomes]
rs883770	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs907091	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs921649	0.82[ASN][1000 genomes]
rs921650	0.82[ASN][1000 genomes]
rs9303277	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9303279	0.81[ASN][1000 genomes]
rs9303280	0.82[ASN][1000 genomes]
rs9303281	0.82[ASN][1000 genomes]
rs9747973	0.82[AMR][1000 genomes]
rs9906951	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv1795575	chr17:37974075-38041762	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv3343597	chr17:38005451-38007999	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3409886	chr17:38005526-38008274	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9916765	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs9916765	GSDMA	cis	Adipose Subcutaneous	GTEx
rs9916765	IKZF3	cis	multi-tissue	Pritchard
rs9916765	GSDMB	cis	Whole Blood	GTEx
rs9916765	GSDML	cis	multi-tissue	Pritchard
rs9916765	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs9916765	ORMDL3	cis	multi-tissue	Pritchard
rs9916765	ORMDL3	cis	Whole Blood	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37999600-38006200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr17:38000000-38006000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr17:38000800-38017400	Weak transcription	Thymus	Thymus
4	chr17:38003000-38006200	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr17:38003200-38006200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr17:38003400-38006200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr17:38003600-38005600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr17:38003600-38006200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr17:38003600-38006200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:38003800-38005800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr17:38003800-38006000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr17:38003800-38006200	Enhancers	Primary T cells from cord blood	blood
13	chr17:38004000-38010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:38004400-38008600	Weak transcription	Pancreas	Pancrea
15	chr17:38004400-38016800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:38004600-38006200	Genic enhancers	GM12878-XiMat	blood
17	chr17:38004800-38005600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:38005000-38005600	Genic enhancers	Fetal Thymus	thymus
19	chr17:38005000-38005800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:38005200-38005800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:38005200-38006000	Enhancers	Primary B cells from cord blood	blood
22	chr17:38005200-38008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:38005200-38014200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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