Variant report

Variant	rs4795390
Chromosome Location	chr17:37781610-37781611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37781012..37783798-chr17:37885303..37888164,4	K562	blood:
2	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:
3	chr17:37776845..37781693-chr17:37790426..37796554,9	K562	blood:
4	chr17:37780595..37782911-chr17:37786267..37787886,2	MCF-7	breast:
5	chr17:37778202..37782049-chr17:37783082..37786622,6	K562	blood:
6	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:

Variant related genes	Relation type
ENSG00000141744	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000131748	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1018246	0.87[ASN][1000 genomes]
rs1053651	0.91[ASN][1000 genomes]
rs10852934	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11651497	0.99[ASN][1000 genomes]
rs11658786	0.89[ASN][1000 genomes]
rs11869286	0.91[ASN][1000 genomes]
rs12150298	0.87[ASN][1000 genomes]
rs12150603	0.87[ASN][1000 genomes]
rs12453682	0.89[ASN][1000 genomes]
rs12940986	0.88[ASN][1000 genomes]
rs14050	0.87[ASN][1000 genomes]
rs1476278	0.88[ASN][1000 genomes]
rs1495099	0.98[ASN][1000 genomes]
rs1495100	0.87[ASN][1000 genomes]
rs1495101	0.87[ASN][1000 genomes]
rs1495102	0.87[ASN][1000 genomes]
rs1565920	0.87[ASN][1000 genomes]
rs1565922	0.87[ASN][1000 genomes]
rs1874228	0.97[ASN][1000 genomes]
rs1877031	0.91[ASN][1000 genomes]
rs2247862	0.87[ASN][1000 genomes]
rs2271308	0.89[ASN][1000 genomes]
rs2271309	0.98[ASN][1000 genomes]
rs2313171	0.87[ASN][1000 genomes]
rs2517952	0.80[ASN][1000 genomes]
rs2517953	0.82[ASN][1000 genomes]
rs2517954	0.81[ASN][1000 genomes]
rs2517955	0.80[ASN][1000 genomes]
rs2517956	0.80[ASN][1000 genomes]
rs2517957	0.89[ASN][1000 genomes]
rs2517958	0.89[ASN][1000 genomes]
rs2517959	0.81[ASN][1000 genomes]
rs2934951	0.87[ASN][1000 genomes]
rs2934952	0.87[ASN][1000 genomes]
rs2934953	0.87[ASN][1000 genomes]
rs2934956	0.87[ASN][1000 genomes]
rs2941503	0.87[ASN][1000 genomes]
rs2941504	0.88[ASN][1000 genomes]
rs2941505	0.87[ASN][1000 genomes]
rs2941506	0.87[ASN][1000 genomes]
rs2952151	0.87[ASN][1000 genomes]
rs2952152	0.86[ASN][1000 genomes]
rs33953566	0.99[ASN][1000 genomes]
rs3751903	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764352	0.99[ASN][1000 genomes]
rs3764353	0.99[ASN][1000 genomes]
rs3794712	0.95[ASN][1000 genomes]
rs3817160	0.98[ASN][1000 genomes]
rs407307	0.84[ASN][1000 genomes]
rs4794817	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795388	0.92[ASN][1000 genomes]
rs4795389	0.97[ASN][1000 genomes]
rs732083	0.87[ASN][1000 genomes]
rs732084	0.87[ASN][1000 genomes]
rs8077172	0.87[ASN][1000 genomes]
rs8078228	0.87[ASN][1000 genomes]
rs879606	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs881844	0.87[ASN][1000 genomes]
rs903501	0.88[ASN][1000 genomes]
rs903502	0.87[ASN][1000 genomes]
rs907087	0.87[ASN][1000 genomes]
rs907088	0.87[ASN][1000 genomes]
rs907089	0.87[ASN][1000 genomes]
rs907090	0.87[ASN][1000 genomes]
rs907094	0.99[ASN][1000 genomes]
rs9303274	0.88[ASN][1000 genomes]
rs9675194	0.87[ASN][1000 genomes]
rs9915323	0.92[ASN][1000 genomes]
rs9972882	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4795390	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37775000-37782400	Weak transcription	Gastric	stomach
2	chr17:37775200-37782600	Weak transcription	Lung	lung
3	chr17:37775200-37782800	Weak transcription	Right Atrium	heart
4	chr17:37775400-37782800	Weak transcription	Right Ventricle	heart
5	chr17:37778400-37782600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:37778800-37781800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr17:37778800-37782400	Enhancers	A549	lung
8	chr17:37778800-37790600	Weak transcription	K562	blood
9	chr17:37779200-37782200	Enhancers	Fetal Lung	lung
10	chr17:37779600-37782600	Weak transcription	Fetal Heart	heart
11	chr17:37780200-37781800	Weak transcription	Hela-S3	cervix
12	chr17:37780200-37783000	Weak transcription	Ovary	ovary
13	chr17:37780400-37782400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:37780800-37783200	Enhancers	Esophagus	oesophagus
15	chr17:37781000-37781800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:37781000-37782000	Enhancers	Brain Anterior Caudate	brain
17	chr17:37781000-37782400	Bivalent Enhancer	Colonic Mucosa	Colon
18	chr17:37781000-37782600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:37781200-37781800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:37781200-37782400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:37781200-37782600	Weak transcription	Fetal Brain Male	brain
22	chr17:37781200-37782600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr17:37781200-37783000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr17:37781400-37781800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr17:37781400-37781800	Bivalent Enhancer	Fetal Kidney	kidney
26	chr17:37781400-37782000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:37781400-37782200	Enhancers	Fetal Intestine Large	intestine
28	chr17:37781400-37782600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:37781400-37782600	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr17:37781400-37782600	Enhancers	Pancreas	Pancrea
31	chr17:37781400-37782600	Enhancers	HMEC	breast
32	chr17:37781400-37782800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr17:37781400-37783000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:37781600-37782000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
35	chr17:37781600-37782400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr17:37781600-37782600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr17:37781600-37782600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:37781600-37782600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:37781600-37782800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:37781600-37782800	Bivalent Enhancer	NHEK	skin
41	chr17:37781600-37783000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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