Variant report

Variant	rs4795402
Chromosome Location	chr17:38085385-38085386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr17:38085257-38086495	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr17:38085074-38086516	SK-N-SH	brain:	n/a	n/a
3	FOS	chr17:38085342-38086444	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr17:38085365-38085870	K562	blood:	n/a	n/a
5	POLR2A	chr17:38083011-38086107	IMR90	lung:	n/a	n/a
6	NFIC	chr17:38085166-38086181	GM12878	blood:	n/a	n/a
7	STAT3	chr17:38085356-38086394	MCF10A-Er-Src	breast:	n/a	n/a
8	IKZF1	chr17:38085309-38086105	GM12878	blood:	n/a	n/a
9	STAT3	chr17:38085342-38086387	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr17:38084822-38086414	K562	blood:	n/a	chr17:38086149-38086162 chr17:38084931-38084940
11	FOS	chr17:38085375-38086415	MCF10A-Er-Src	breast:	n/a	n/a
12	MTA3	chr17:38085306-38086158	GM12878	blood:	n/a	n/a
13	ATF1	chr17:38085338-38085868	K562	blood:	n/a	n/a
14	SP1	chr17:38085285-38086444	A549	lung:	n/a	n/a
15	NFIC	chr17:38085292-38086445	SK-N-SH	brain:	n/a	n/a
16	RUNX3	chr17:38085146-38086078	GM12878	blood:	n/a	n/a
17	MEF2C	chr17:38085355-38085983	GM12878	blood:	n/a	n/a
18	STAT3	chr17:38085311-38086313	Hela-S3	cervix:	n/a	n/a
19	MEF2A	chr17:38085139-38086049	SK-N-SH	brain:	n/a	n/a
20	EP300	chr17:38085198-38086442	SK-N-SH	brain:	n/a	n/a
21	GATA2	chr17:38085302-38085911	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr17:38085260-38086175	HUVEC	blood vessel:	n/a	n/a
23	PBX3	chr17:38085249-38086317	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr17:38085158-38085466	HepG2	liver:	n/a	n/a
25	BATF	chr17:38085369-38085841	GM12878	blood:	n/a	n/a
26	MAFK	chr17:38085295-38085754	Hela-S3	cervix:	n/a	n/a
27	FOXM1	chr17:38085274-38085992	GM12878	blood:	n/a	n/a
28	CREB1	chr17:38085236-38086030	GM12878	blood:	n/a	n/a
29	RXRA	chr17:38085216-38085947	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr17:38085358-38085385	K562	blood:	n/a	n/a
31	JUN	chr17:38085332-38086390	HUVEC	blood vessel:	n/a	chr17:38086149-38086162
32	POLR2A	chr17:38085385-38085882	SK-N-SH	brain:	n/a	n/a
33	MAFK	chr17:38085229-38085438	HepG2	liver:	n/a	n/a
34	GATA3	chr17:38085270-38086501	A549	lung:	n/a	n/a
35	MEF2A	chr17:38085319-38085925	GM12878	blood:	n/a	n/a
36	SP1	chr17:38085273-38086524	A549	lung:	n/a	n/a
37	JUN	chr17:38085339-38086371	Hela-S3	cervix:	n/a	chr17:38086149-38086162
38	KAP1	chr17:38085385-38085955	U2OS	brain:	n/a	n/a
39	MEF2A	chr17:38085156-38086436	SK-N-SH	brain:	n/a	n/a
40	MEF2A	chr17:38085257-38085915	K562	blood:	n/a	n/a
41	MEF2A	chr17:38085255-38085969	GM12878	blood:	n/a	n/a
42	JUND	chr17:38085305-38086475	SK-N-SH	brain:	n/a	n/a
43	MAFK	chr17:38084876-38086267	IMR90	lung:	n/a	n/a
44	ATF3	chr17:38085293-38085795	K562	blood:	n/a	n/a
45	CUX1	chr17:38085234-38085804	K562	blood:	n/a	n/a
46	TEAD4	chr17:38085326-38086472	SK-N-SH	brain:	n/a	n/a
47	CEBPB	chr17:38085199-38086302	GM12878	blood:	n/a	n/a
48	FOSL2	chr17:38085075-38086566	SK-N-SH	brain:	n/a	n/a
49	ATF2	chr17:38085280-38086049	GM12878	blood:	n/a	n/a
50	STAT3	chr17:38085361-38086394	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38082705..38085668-chr17:38094969..38098446,5	K562	blood:
2	chr17:38083081..38090987-chr17:38092901..38098446,8	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3C-1	chr17:38085361-38085486	ENSG00000264968.1
2	lnc-LRRC3C-1	chr17:38084198-38086404	NONHSAT053500
3	lnc-LRRC3C-1	chr17:38085361-38085608	ENSG00000264968.1

No data

Variant related genes	Relation type
ORMDL3	TF binding region
ENSG00000204913	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1008723	0.80[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1011082	0.85[ASN][1000 genomes]
rs1031458	0.85[ASN][1000 genomes]
rs1031460	0.85[ASN][1000 genomes]
rs10852936	0.88[JPT][hapmap]
rs11078925	0.88[JPT][hapmap]
rs11078926	0.83[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11078927	0.83[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11078928	0.81[ASN][1000 genomes]
rs11557466	0.82[JPT][hapmap]
rs11557467	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11650661	0.81[ASN][1000 genomes]
rs11651596	0.81[ASN][1000 genomes]
rs11655198	0.81[ASN][1000 genomes]
rs11655292	0.81[ASN][1000 genomes]
rs11870965	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12103884	0.81[ASN][1000 genomes]
rs12603332	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12709365	0.81[ASN][1000 genomes]
rs12936231	0.80[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12936409	0.81[ASN][1000 genomes]
rs12939832	0.81[ASN][1000 genomes]
rs12946393	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949100	0.81[ASN][1000 genomes]
rs12950209	0.81[ASN][1000 genomes]
rs12950743	0.81[ASN][1000 genomes]
rs13380815	0.81[ASN][1000 genomes]
rs2290400	0.80[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2305479	0.83[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2305480	0.83[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2872516	0.82[ASN][1000 genomes]
rs34120102	0.81[ASN][1000 genomes]
rs36000226	0.81[ASN][1000 genomes]
rs3744246	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816470	0.80[CHD][hapmap];0.88[JPT][hapmap]
rs4065275	0.90[ASN][1000 genomes]
rs4794820	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4795399	0.81[ASN][1000 genomes]
rs4795400	0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs4795401	0.85[ASN][1000 genomes]
rs4795403	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795404	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795405	0.89[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs56380902	0.85[ASN][1000 genomes]
rs62067034	0.81[ASN][1000 genomes]
rs6503524	0.85[ASN][1000 genomes]
rs7216389	0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7216558	0.85[ASN][1000 genomes]
rs7219923	0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7221605	0.82[ASN][1000 genomes]
rs7224129	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7224908	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359623	0.81[ASN][1000 genomes]
rs8065777	0.85[ASN][1000 genomes]
rs8067378	0.81[ASN][1000 genomes]
rs8069176	0.83[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs8074437	0.83[ASN][1000 genomes]
rs8076131	0.89[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs869402	0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs883770	0.81[ASN][1000 genomes]
rs907092	0.80[CHD][hapmap]
rs921649	0.85[ASN][1000 genomes]
rs921650	0.85[ASN][1000 genomes]
rs9303279	0.85[ASN][1000 genomes]
rs9303280	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs9303281	0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4795402	GSDMB	cis	parietal	SCAN
rs4795402	ORMDL3	cis	Lymphoblastoid	GTEx
rs4795402	DHRS11	cis	parietal	SCAN
rs4795402	ORMDL3	cis	parietal	SCAN
rs4795402	RP11-387H17.4	cis	Muscle Skeletal	GTEx
rs4795402	ORMDL3	cis	lymphoblastoid	seeQTL
rs4795402	GSDMB	cis	cerebellum	SCAN
rs4795402	KRTAP4-5	cis	cerebellum	SCAN
rs4795402	ORMDL3	cis	multi-tissue	Pritchard

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38084000-38085400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:38084000-38085400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:38084000-38085400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:38084000-38085400	Flanking Active TSS	HSMM	muscle
5	chr17:38084000-38085400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr17:38084000-38085400	Flanking Active TSS	NHLF	lung
7	chr17:38084000-38086200	Flanking Active TSS	NH-A	brain
8	chr17:38084000-38086200	Flanking Active TSS	Osteobl	bone
9	chr17:38084000-38086400	Flanking Active TSS	HUVEC	blood vessel
10	chr17:38084200-38086000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr17:38084200-38086200	Flanking Active TSS	A549	lung
12	chr17:38084400-38085400	Enhancers	Primary B cells from cord blood	blood
13	chr17:38084400-38085400	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr17:38084400-38085400	Flanking Active TSS	Stomach Mucosa	stomach
15	chr17:38084400-38085400	Enhancers	Spleen	Spleen
16	chr17:38084400-38086000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr17:38084400-38086200	Flanking Active TSS	Fetal Heart	heart
18	chr17:38084400-38086200	Flanking Active TSS	GM12878-XiMat	blood
19	chr17:38084400-38086400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:38084600-38085400	Enhancers	Pancreas	Pancrea
21	chr17:38084600-38085800	Enhancers	Fetal Thymus	thymus
22	chr17:38084600-38085800	Enhancers	NHEK	skin
23	chr17:38084600-38086000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38084600-38086000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr17:38084600-38086000	Enhancers	Placenta	Placenta
26	chr17:38084600-38086000	Enhancers	Small Intestine	intestine
27	chr17:38084600-38086400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:38084600-38086400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:38084800-38085400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr17:38084800-38085400	Enhancers	Primary hematopoietic stem cells	blood
31	chr17:38084800-38085400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:38084800-38085400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr17:38084800-38085400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr17:38084800-38085400	Enhancers	Fetal Muscle Leg	muscle
35	chr17:38084800-38085400	Enhancers	Psoas Muscle	Psoas
36	chr17:38084800-38085600	Enhancers	Fetal Intestine Large	intestine
37	chr17:38084800-38085600	Enhancers	Fetal Intestine Small	intestine
38	chr17:38084800-38085600	Enhancers	Thymus	Thymus
39	chr17:38084800-38085800	Enhancers	NHDF-Ad	bronchial
40	chr17:38084800-38086000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:38084800-38086200	Enhancers	HSMMtube	muscle
42	chr17:38084800-38086400	Enhancers	HMEC	breast
43	chr17:38084800-38086600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:38085000-38085400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr17:38085000-38085400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr17:38085000-38085400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr17:38085000-38085400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:38085000-38085400	Flanking Active TSS	Aorta	Aorta
49	chr17:38085000-38085400	Flanking Active TSS	HepG2	liver
50	chr17:38085000-38085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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