Variant report

Variant	rs11694671
Chromosome Location	chr2:190798570-190798571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:190798418-190799274	A549	lung:	n/a	n/a
2	REST	chr2:190798536-190799140	A549	lung:	n/a	n/a
3	BCL3	chr2:190798514-190799234	A549	lung:	n/a	n/a
4	PBX3	chr2:190798474-190799320	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr2:190798445-190799236	SK-N-SH	brain:	n/a	n/a
6	RFX5	chr2:190798467-190799155	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr2:190798551-190799125	A549	lung:	n/a	chr2:190798850-190798859
8	SP1	chr2:190798556-190799140	A549	lung:	n/a	n/a
9	JUN	chr2:190798569-190799176	Hela-S3	cervix:	n/a	n/a
10	TEAD4	chr2:190798545-190799173	A549	lung:	n/a	n/a
11	FOSL2	chr2:190798489-190799207	SK-N-SH	brain:	n/a	n/a
12	RXRA	chr2:190798457-190799233	SK-N-SH	brain:	n/a	n/a
13	EP300	chr2:190798532-190799168	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr2:190798511-190799320	A549	lung:	n/a	n/a
15	TEAD4	chr2:190798558-190799181	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr2:190798512-190799179	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr2:190798370-190799371	SK-N-SH	brain:	n/a	chr2:190798480-190798496 chr2:190798483-190798493 chr2:190798480-190798496 chr2:190798850-190798859 chr2:190798482-190798494
18	GABPA	chr2:190798568-190799198	A549	lung:	n/a	n/a
19	CEBPB	chr2:190798431-190799296	A549	lung:	n/a	n/a
20	POLR2A	chr2:190798568-190799159	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr2:190798536-190799164	IMR90	lung:	n/a	n/a
22	FOS	chr2:190798543-190799084	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr2:190798397-190799362	SK-N-SH	brain:	n/a	chr2:190799320-190799329
24	FOSL2	chr2:190798442-190799218	A549	lung:	n/a	n/a
25	SP1	chr2:190798467-190799341	A549	lung:	n/a	n/a
26	TCF12	chr2:190798547-190799172	A549	lung:	n/a	n/a
27	EP300	chr2:190798416-190799297	A549	lung:	n/a	n/a
28	FOXA2	chr2:190798559-190799127	A549	lung:	n/a	n/a
29	TCF12	chr2:190798388-190799377	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr2:190798430-190799332	SK-N-SH	brain:	n/a	chr2:190798480-190798496 chr2:190798483-190798493 chr2:190798480-190798496 chr2:190798850-190798859 chr2:190798482-190798494
31	FOSL2	chr2:190798561-190799121	A549	lung:	n/a	n/a
32	TEAD4	chr2:190798408-190799364	SK-N-SH	brain:	n/a	n/a
33	PBX3	chr2:190798546-190799163	SK-N-SH	brain:	n/a	n/a
34	MAX	chr2:190798524-190799204	A549	lung:	n/a	n/a
35	GATA3	chr2:190798268-190799400	A549	lung:	n/a	chr2:190798480-190798496 chr2:190798483-190798493 chr2:190798480-190798496 chr2:190798850-190798859 chr2:190798482-190798494
36	CEBPB	chr2:190798544-190799170	A549	lung:	n/a	n/a
37	FOXM1	chr2:190798500-190799288	ECC-1	luminal epithelium:	n/a	n/a
38	JUND	chr2:190798536-190799353	SK-N-SH	brain:	n/a	n/a
39	MAX	chr2:190798515-190799223	A549	lung:	n/a	n/a
40	TCF12	chr2:190798490-190799356	SK-N-SH	brain:	n/a	n/a
41	EP300	chr2:190798418-190799370	A549	lung:	n/a	chr2:190799320-190799329
42	TEAD4	chr2:190798522-190799251	ECC-1	luminal epithelium:	n/a	n/a
43	MEF2A	chr2:190798511-190799280	SK-N-SH	brain:	n/a	chr2:190798923-190798934 chr2:190798924-190798933
44	EP300	chr2:190798545-190799161	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr2:190798404-190799360	SK-N-SH	brain:	n/a	n/a
46	JUND	chr2:190798535-190799135	Hela-S3	cervix:	n/a	n/a
47	FOXM1	chr2:190798327-190799349	SK-N-SH	brain:	n/a	n/a
48	EP300	chr2:190798359-190799209	SK-N-SH	brain:	n/a	n/a
49	MEF2A	chr2:190798408-190799307	SK-N-SH	brain:	n/a	chr2:190798923-190798934 chr2:190799279-190799290 chr2:190798924-190798933
50	JUND	chr2:190798394-190799328	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000213110	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10931436	0.85[EUR][1000 genomes]
rs10931437	0.85[EUR][1000 genomes]
rs12465163	0.85[EUR][1000 genomes]
rs2164252	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2168058	0.81[EUR][1000 genomes]
rs34806740	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6761221	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7608094	0.86[EUR][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	nsv875618	chr2:190789387-190883360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11694671	ASNSD1	cis	cerebellum	SCAN
rs11694671	ORMDL1	cis	multi-tissue	Pritchard
rs11694671	FSIP2	cis	cerebellum	SCAN
rs11694671	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs11694671	ORMDL1	cis	lymphoblastoid	seeQTL
rs11694671	PMS1	cis	parietal	SCAN
rs11694671	ORMDL1	cis	Lymphoblastoid	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190797400-190800800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:190797600-190800000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:190797600-190800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:190797600-190800800	Enhancers	HSMM	muscle
5	chr2:190797600-190800800	Enhancers	NHDF-Ad	bronchial
6	chr2:190797600-190801000	Enhancers	NHEK	skin
7	chr2:190797800-190799200	Flanking Active TSS	A549	lung
8	chr2:190797800-190800600	Enhancers	Osteobl	bone
9	chr2:190798000-190800000	Enhancers	NH-A	brain
10	chr2:190798200-190799000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:190798200-190799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:190798200-190799400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:190798200-190800600	Weak transcription	NHLF	lung
14	chr2:190798400-190798800	Enhancers	GM12878-XiMat	blood
15	chr2:190798400-190799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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