Variant report

Variant	rs72950011
Chromosome Location	chr11:36348565-36348566
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	SPI1	chr11:36348558-36348826	GM12878	blood:	n/a	n/a
2	MEF2A	chr11:36348457-36348956	GM12878	blood:	n/a	n/a
3	SPI1	chr11:36348460-36348941	GM12891	blood:	n/a	n/a
4	SPI1	chr11:36348493-36348947	HL-60	blood:	n/a	n/a
5	SP1	chr11:36348528-36349103	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr11:36348514-36348826	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr11:36348350-36349188	H1-hESC	embryonic stem cell:	n/a	n/a
8	EBF1	chr11:36348264-36348916	GM12878	blood:	n/a	n/a
9	SPI1	chr11:36348508-36348865	GM12878	blood:	n/a	n/a
10	SPI1	chr11:36348411-36349056	GM12878	blood:	n/a	n/a
11	SPI1	chr11:36348486-36348879	GM12891	blood:	n/a	n/a
12	EP300	chr11:36348404-36348905	GM12878	blood:	n/a	n/a
13	EP300	chr11:36348414-36348803	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254566	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11033551	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033571	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11033574	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11603116	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11603868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11605183	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821536	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7129893	1.00[ASN][1000 genomes]
rs72948137	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72948144	0.96[ASN][1000 genomes]
rs72950009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950012	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950014	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950015	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950042	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950046	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950047	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950049	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72950059	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr11:36341400-36355800	Weak transcription	Brain Substantia Nigra	brain
2	chr11:36347800-36349000	Enhancers	GM12878-XiMat	blood
3	chr11:36348000-36349000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:36348200-36348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:36348200-36349600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:36348200-36349600	Enhancers	Primary B cells from cord blood	blood
7	chr11:36348400-36348600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:36348400-36348800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:36348400-36348800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:36348400-36348800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:36348400-36349600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:36348400-36349600	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:36348400-36349800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:36348400-36349800	Enhancers	Fetal Intestine Large	intestine
15	chr11:36348400-36352600	Enhancers	Fetal Intestine Small	intestine

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