Variant report

Variant	rs11931471
Chromosome Location	chr4:78929924-78929925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr4:78929630-78929930	HepG2	liver:	n/a	n/a
2	SP1	chr4:78929635-78929965	HepG2	liver:	n/a	n/a
3	POU2F2	chr4:78929644-78929933	GM12878	blood:	n/a	n/a
4	TCF12	chr4:78929633-78929956	HepG2	liver:	n/a	n/a
5	ZBTB33	chr4:78929606-78929976	GM12878	blood:	n/a	n/a
6	FOSL2	chr4:78929617-78930093	HepG2	liver:	n/a	n/a
7	BCL11A	chr4:78929628-78929950	GM12878	blood:	n/a	n/a
8	SIX5	chr4:78929657-78929994	K562	blood:	n/a	n/a
9	RXRA	chr4:78929660-78929944	HepG2	liver:	n/a	n/a
10	RXRA	chr4:78929533-78929948	HepG2	liver:	n/a	n/a
11	GATA2	chr4:78929604-78930003	K562	blood:	n/a	n/a
12	POLR2A	chr4:78929536-78929970	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr4:78929584-78930105	K562	blood:	n/a	n/a
14	PAX5	chr4:78929612-78929926	GM12878	blood:	n/a	n/a
15	PAX5	chr4:78929617-78929993	GM12878	blood:	n/a	n/a
16	ZBTB33	chr4:78929574-78930023	HepG2	liver:	n/a	n/a
17	RXRA	chr4:78929578-78929934	GM12878	blood:	n/a	n/a
18	SP1	chr4:78929642-78929972	GM12878	blood:	n/a	n/a
19	FOXA1	chr4:78929578-78929945	HepG2	liver:	n/a	n/a
20	IRF4	chr4:78929551-78929929	GM12878	blood:	n/a	n/a
21	SP1	chr4:78929637-78930002	K562	blood:	n/a	n/a
22	SP1	chr4:78929592-78930023	GM12878	blood:	n/a	n/a
23	IRF4	chr4:78929631-78930015	GM12878	blood:	n/a	n/a
24	JUND	chr4:78929621-78929986	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000249072	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10019920	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10027739	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10030568	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10049674	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13131974	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1393643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1604609	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2088995	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2102192	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28417234	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28483318	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859512	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4859513	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533355	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6533372	0.94[ASN][1000 genomes]
rs6814088	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6820725	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7436080	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs924684	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs924685	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9985806	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1004772	chr4:78906866-78976561	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv980222	chr4:78924673-78931183	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11931471	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL
rs11931471	HMGB1P44	cis	Muscle Skeletal	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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