Variant report

Variant	rs8071789
Chromosome Location	chr17:38006333-38006334
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: 6 )
Associated
traits (count: 4 )

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3356491	chr17:38005976-38008624	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8071789	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs8071789	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs8071789	GSDMA	cis	Adipose Subcutaneous	GTEx
rs8071789	GSDMB	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38000800-38017400	Weak transcription	Thymus	Thymus
2	chr17:38004000-38010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:38004400-38008600	Weak transcription	Pancreas	Pancrea
4	chr17:38004400-38016800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:38005200-38008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:38005200-38014200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:38006000-38007200	Weak transcription	Primary B cells from cord blood	blood
8	chr17:38006000-38007800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr17:38006000-38008200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:38006200-38007200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:38006200-38007200	Weak transcription	GM12878-XiMat	blood
12	chr17:38006200-38007400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr17:38006200-38007400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:38006200-38007400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:38006200-38007400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:38006200-38007800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:38006200-38007800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr17:38006200-38007800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:38006200-38008400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:38006200-38008600	Weak transcription	Primary T cells from cord blood	blood
21	chr17:38006200-38008800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:38006200-38017400	Weak transcription	Fetal Thymus	thymus

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