Variant report

Variant	rs6761221
Chromosome Location	chr2:190798939-190798940
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	RAD21	chr2:190798584-190799161	Hela-S3	cervix:	n/a	n/a
6	NFIC	chr2:190798445-190799236	SK-N-SH	brain:	n/a	n/a
7	RFX5	chr2:190798467-190799155	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr2:190798551-190799125	A549	lung:	n/a	chr2:190798850-190798859
9	YY1	chr2:190798734-190799161	SK-N-SH	brain:	n/a	n/a
10	SP1	chr2:190798556-190799140	A549	lung:	n/a	n/a
11	JUN	chr2:190798569-190799176	Hela-S3	cervix:	n/a	n/a
12	TEAD4	chr2:190798545-190799173	A549	lung:	n/a	n/a
13	JUND	chr2:190798666-190799011	A549	lung:	n/a	n/a
14	FOSL2	chr2:190798489-190799207	SK-N-SH	brain:	n/a	n/a
15	RXRA	chr2:190798457-190799233	SK-N-SH	brain:	n/a	n/a
16	EP300	chr2:190798532-190799168	ECC-1	luminal epithelium:	n/a	n/a
17	MAFK	chr2:190798578-190799194	Hela-S3	cervix:	n/a	chr2:190798847-190798857 chr2:190798847-190798856
18	TCF12	chr2:190798511-190799320	A549	lung:	n/a	n/a
19	TEAD4	chr2:190798558-190799181	ECC-1	luminal epithelium:	n/a	n/a
20	CEBPB	chr2:190798512-190799179	Hela-S3	cervix:	n/a	n/a
21	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
22	GABPA	chr2:190798568-190799198	A549	lung:	n/a	n/a
23	CEBPB	chr2:190798431-190799296	A549	lung:	n/a	n/a
24	POLR2A	chr2:190798568-190799159	SK-N-SH	brain:	n/a	n/a
25	MYC	chr2:190798698-190799133	MCF10A-Er-Src	breast:	n/a	n/a
26	CEBPB	chr2:190798536-190799164	IMR90	lung:	n/a	n/a
27	FOS	chr2:190798543-190799084	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr2:190798397-190799362	SK-N-SH	brain:	n/a	chr2:190799320-190799329
29	FOSL2	chr2:190798442-190799218	A549	lung:	n/a	n/a
30	SP1	chr2:190798467-190799341	A549	lung:	n/a	n/a
31	TBP	chr2:190798602-190799095	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr2:190798629-190799193	Hela-S3	cervix:	n/a	n/a
33	FOS	chr2:190798649-190799126	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF12	chr2:190798547-190799172	A549	lung:	n/a	n/a
35	EP300	chr2:190798416-190799297	A549	lung:	n/a	n/a
36	FOXA2	chr2:190798559-190799127	A549	lung:	n/a	n/a
37	FOS	chr2:190798684-190799021	MCF10A-Er-Src	breast:	n/a	n/a
38	TCF12	chr2:190798388-190799377	SK-N-SH	brain:	n/a	n/a
39	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
40	FOSL2	chr2:190798561-190799121	A549	lung:	n/a	n/a
41	TEAD4	chr2:190798408-190799364	SK-N-SH	brain:	n/a	n/a
42	CEBPB	chr2:190798574-190799103	A549	lung:	n/a	n/a
43	PBX3	chr2:190798546-190799163	SK-N-SH	brain:	n/a	n/a
44	FOSL2	chr2:190798648-190799209	SK-N-SH	brain:	n/a	n/a
45	MAX	chr2:190798524-190799204	A549	lung:	n/a	n/a
46	GATA3	chr2:190798268-190799400	A549	lung:	n/a	chr2:190798480-190798496 chr2:190798483-190798493 chr2:190798480-190798496 chr2:190798850-190798859 chr2:190798482-190798494
47	MAX	chr2:190798705-190799201	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr2:190798712-190799285	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr2:190798544-190799170	A549	lung:	n/a	n/a
50	FOXM1	chr2:190798500-190799288	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000213110	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10931436	0.87[EUR][1000 genomes]
rs10931437	0.87[EUR][1000 genomes]
rs11694671	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]
rs12465163	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12693559	0.82[EUR][1000 genomes]
rs1474359	0.83[GIH][hapmap]
rs2164252	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2168058	0.84[EUR][1000 genomes]
rs34806740	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55786820	0.81[AMR][1000 genomes]
rs6749277	0.83[ASN][1000 genomes]
rs72905390	0.88[ASN][1000 genomes]
rs7608094	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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	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
rs6761221	PMS1	cis	parietal	SCAN
rs6761221	ORMDL1	cis	Lymphoblastoid	GTEx
rs6761221	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs6761221	FSIP2	cis	cerebellum	SCAN
rs6761221	ORMDL1	cis	lymphoblastoid	seeQTL
rs6761221	ASNSD1	cis	cerebellum	SCAN
rs6761221	ORMDL1	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 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	chr2:190798400-190799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:190798600-190799000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:190798600-190799200	Enhancers	Hela-S3	cervix

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