Variant report

Variant	rs9388994
Chromosome Location	chr6:132726641-132726642
allele	G/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	RUNX3	chr6:132726213-132726722	GM12878	blood:	n/a	n/a
2	RELA	chr6:132725411-132726679	GM18505	blood:	n/a	n/a
3	FOS	chr6:132725864-132726717	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr6:132725649-132726706	GM12878	blood:	n/a	chr6:132726235-132726245 chr6:132726235-132726244
5	ATF2	chr6:132726247-132726788	GM12878	blood:	n/a	n/a
6	BCL3	chr6:132726291-132726676	GM12878	blood:	n/a	n/a
7	NFIC	chr6:132726145-132726771	GM12878	blood:	n/a	n/a
8	GATA3	chr6:132726473-132727084	SK-N-SH	brain:	n/a	n/a
9	FOS	chr6:132725845-132726711	MCF10A-Er-Src	breast:	n/a	n/a
10	ATF2	chr6:132726180-132726820	GM12878	blood:	n/a	n/a
11	ZNF384	chr6:132726397-132726727	GM12878	blood:	n/a	n/a
12	MEF2A	chr6:132726217-132726938	SK-N-SH	brain:	n/a	n/a
13	FOXM1	chr6:132726239-132726739	GM12878	blood:	n/a	n/a
14	MEF2C	chr6:132726190-132726813	GM12878	blood:	n/a	chr6:132726533-132726548
15	BATF	chr6:132726358-132726658	GM12878	blood:	n/a	chr6:132726513-132726524
16	STAT3	chr6:132726529-132726729	MCF10A-Er-Src	breast:	n/a	n/a
17	PML	chr6:132726385-132726728	GM12878	blood:	n/a	n/a
18	NFATC1	chr6:132726247-132726744	GM12878	blood:	n/a	n/a
19	EP300	chr6:132725497-132726713	GM12878	blood:	n/a	chr6:132726613-132726627
20	FOS	chr6:132726406-132726666	MCF10A-Er-Src	breast:	n/a	n/a
21	BCL11A	chr6:132726405-132726655	GM12878	blood:	n/a	n/a
22	MEF2A	chr6:132726203-132726831	SK-N-SH	brain:	n/a	n/a
23	CUX1	chr6:132726338-132726810	GM12878	blood:	n/a	n/a
24	MYC	chr6:132726472-132726770	MCF10A-Er-Src	breast:	n/a	n/a
25	MEF2A	chr6:132726183-132726855	GM12878	blood:	n/a	n/a
26	MEF2A	chr6:132725272-132726814	GM12878	blood:	n/a	chr6:132726066-132726077
27	CREB1	chr6:132726260-132726777	GM12878	blood:	n/a	n/a
28	MTA3	chr6:132725229-132726779	GM12878	blood:	n/a	n/a
29	RELA	chr6:132725363-132726678	GM12891	blood:	n/a	n/a
30	RUNX3	chr6:132726296-132726710	GM12878	blood:	n/a	n/a
31	BATF	chr6:132726394-132726656	GM12878	blood:	n/a	chr6:132726513-132726524
32	FOS	chr6:132726339-132726702	MCF10A-Er-Src	breast:	n/a	n/a
33	NFIC	chr6:132725198-132726813	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr6:132725332-132726786	GM12878	blood:	n/a	n/a
35	MEF2C	chr6:132726367-132726693	GM12878	blood:	n/a	chr6:132726533-132726548
36	FOXM1	chr6:132725266-132726810	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MOXD1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1000848	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1000849	0.99[ASN][1000 genomes]
rs12660839	0.99[ASN][1000 genomes]
rs12663764	1.00[ASN][1000 genomes]
rs1338934	0.86[ASN][1000 genomes]
rs1338936	0.86[ASN][1000 genomes]
rs1338937	0.86[ASN][1000 genomes]
rs1338938	0.99[ASN][1000 genomes]
rs1538307	0.99[ASN][1000 genomes]
rs2153175	0.99[ASN][1000 genomes]
rs2185185	0.99[ASN][1000 genomes]
rs2211095	0.96[ASN][1000 genomes]
rs2327242	0.99[ASN][1000 genomes]
rs2327243	0.90[ASN][1000 genomes]
rs2327244	0.93[ASN][1000 genomes]
rs2876186	0.99[ASN][1000 genomes]
rs2876187	0.96[ASN][1000 genomes]
rs4377800	0.96[ASN][1000 genomes]
rs4489176	0.96[ASN][1000 genomes]
rs4515403	0.96[ASN][1000 genomes]
rs4529319	0.96[ASN][1000 genomes]
rs4897580	0.96[ASN][1000 genomes]
rs6569796	0.96[ASN][1000 genomes]
rs6900501	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6906574	0.83[ASN][1000 genomes]
rs6921325	0.96[ASN][1000 genomes]
rs6922502	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923916	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929072	0.83[ASN][1000 genomes]
rs6937815	0.96[ASN][1000 genomes]
rs6938427	0.96[ASN][1000 genomes]
rs6942368	0.95[ASN][1000 genomes]
rs73776207	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7450274	0.99[ASN][1000 genomes]
rs7743007	0.99[ASN][1000 genomes]
rs7743456	0.99[ASN][1000 genomes]
rs7750935	0.96[ASN][1000 genomes]
rs7754992	0.96[ASN][1000 genomes]
rs7757469	0.96[ASN][1000 genomes]
rs7757641	0.96[ASN][1000 genomes]
rs7759787	0.86[ASN][1000 genomes]
rs7761178	0.84[ASN][1000 genomes]
rs7770281	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770326	0.96[ASN][1000 genomes]
rs8180540	0.96[ASN][1000 genomes]
rs9375888	0.96[ASN][1000 genomes]
rs9385605	0.99[ASN][1000 genomes]
rs9388993	0.86[ASN][1000 genomes]
rs9388995	0.96[ASN][1000 genomes]
rs9399023	0.99[ASN][1000 genomes]
rs9399027	0.96[ASN][1000 genomes]
rs9399028	0.85[ASN][1000 genomes]
rs9402405	0.99[ASN][1000 genomes]
rs9483442	0.84[ASN][1000 genomes]
rs9493308	0.86[ASN][1000 genomes]
rs9493309	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132724200-132727800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:132724600-132727000	Flanking Active TSS	GM12878-XiMat	blood
3	chr6:132724800-132727600	Enhancers	Osteobl	bone
4	chr6:132725000-132727200	Enhancers	NHLF	lung
5	chr6:132725200-132727400	Enhancers	NH-A	brain
6	chr6:132725200-132734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:132725400-132727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:132725600-132726800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:132725600-132727200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:132725800-132727000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:132726000-132727400	Enhancers	HSMM	muscle
12	chr6:132726200-132727200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:132726400-132727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:132726400-132734200	Weak transcription	Fetal Kidney	kidney
15	chr6:132726600-132733600	Weak transcription	NHDF-Ad	bronchial

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