Variant report

Variant	rs2313430
Chromosome Location	chr17:37929816-37929817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37924711..37926315-chr17:37927219..37929986,2	MCF-7	breast:
2	chr17:37926557..37928473-chr17:37928969..37931505,2	K562	blood:
3	chr17:37928224..37930881-chr17:37931679..37935792,4	K562	blood:
4	chr17:37910518..37912033-chr17:37928205..37930091,2	K562	blood:
5	chr17:37908791..37912830-chr17:37925750..37930091,5	K562	blood:

Variant related genes	Relation type
ENSG00000161405	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10445308	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658993	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12936231	0.80[EUR][1000 genomes]
rs12942330	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12944882	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12946510	0.98[ASN][1000 genomes]
rs1453559	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2941522	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952140	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952144	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816470	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4795395	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8067378	0.80[EUR][1000 genomes]
rs907091	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907092	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9303277	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9747973	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9909593	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9916765	0.90[AMR][1000 genomes];0.83[EUR][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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2313430	ORMDL3	cis	Whole Blood	GTEx
rs2313430	IKZF3	cis	multi-tissue	Pritchard
rs2313430	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs2313430	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs2313430	GSDMB	cis	Whole Blood	GTEx
rs2313430	GSDML	cis	multi-tissue	Pritchard
rs2313430	ORMDL3	cis	multi-tissue	Pritchard
rs2313430	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37912000-37930400	Weak transcription	Esophagus	oesophagus
2	chr17:37920000-37930000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:37920800-37931000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr17:37925600-37938400	Weak transcription	Pancreas	Pancrea
5	chr17:37927200-37930400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:37927400-37930400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:37927400-37931000	Genic enhancers	Fetal Thymus	thymus
8	chr17:37928000-37931000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr17:37928400-37930400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr17:37928400-37930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:37928600-37930200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr17:37928800-37930200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr17:37928800-37930600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr17:37929000-37930200	Enhancers	Thymus	Thymus
15	chr17:37929000-37930400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:37929400-37930400	Enhancers	Primary hematopoietic stem cells	blood
17	chr17:37929400-37930800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr17:37929400-37931200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr17:37929400-37931400	Genic enhancers	Primary B cells from cord blood	blood
20	chr17:37929400-37932000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:37929600-37930200	Active TSS	Primary T cells fromperipheralblood	blood
22	chr17:37929600-37930400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:37929600-37930400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:37929600-37930400	Weak transcription	Colonic Mucosa	Colon
25	chr17:37929600-37931000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr17:37929600-37931000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:37929800-37930000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr17:37929800-37930000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr17:37929800-37930200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:37929800-37930200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:37929800-37930400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr17:37929800-37930600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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