Variant report

Variant	rs67376373
Chromosome Location	chr4:616824-616825
allele	A/G
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	ZEB1	chr4:616148-617280	GM12878	blood:	n/a	chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723
2	TCF3	chr4:616277-616918	GM12878	blood:	n/a	n/a
3	TAL1	chr4:616807-616829	K562	blood:	n/a	n/a
4	ZEB1	chr4:616163-616973	GM12878	blood:	n/a	chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723
5	ZEB1	chr4:616102-617173	HepG2	liver:	n/a	chr4:616727-616736 chr4:616753-616762 chr4:616740-616749 chr4:616701-616710 chr4:616690-616699 chr4:616677-616686 chr4:616714-616723
6	TCF12	chr4:616703-616894	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr4:616422-616865	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:615679..617414-chr4:667788..669338,2	MCF-7	breast:
2	chr4:615876..617771-chr4:628086..630978,3	K562	blood:

Variant related genes	Relation type
PDE6B	TF binding region
ENSG00000169020	Chromatin interaction
ENSG00000215375	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10007206	0.80[ASN][1000 genomes]
rs10007497	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10021714	0.94[ASN][1000 genomes]
rs10029928	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10031745	0.88[EUR][1000 genomes]
rs10031968	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10033239	0.97[ASN][1000 genomes]
rs11248029	0.82[ASN][1000 genomes]
rs13107358	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13146809	0.89[ASN][1000 genomes]
rs28403281	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28469188	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs28476575	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28502612	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28520978	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28711586	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28714509	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28754797	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28769407	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28826275	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34307246	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4075653	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67703486	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72611197	0.81[ASN][1000 genomes]
rs72611198	0.82[ASN][1000 genomes]
rs72611199	0.82[ASN][1000 genomes]
rs72611200	0.82[ASN][1000 genomes]
rs72611201	0.82[ASN][1000 genomes]
rs72611202	0.82[ASN][1000 genomes]
rs72613103	0.82[ASN][1000 genomes]
rs72613104	0.80[ASN][1000 genomes]
rs72613105	0.80[ASN][1000 genomes]
rs72613106	0.80[ASN][1000 genomes]
rs72613109	0.84[ASN][1000 genomes]
rs7438471	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7661376	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9884240	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9997286	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9998967	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
10	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv593205	chr4:601791-623629	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	esv3359214	chr4:614252-618550	Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
17	nsv967276	chr4:615881-624526	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	esv3418296	chr4:616802-619150	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:615600-617600	Enhancers	Brain Hippocampus Middle	brain
2	chr4:615800-618200	Enhancers	Brain Substantia Nigra	brain
3	chr4:616000-617400	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:616200-617000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:616200-617400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:616200-618200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:616200-618400	Enhancers	Brain Angular Gyrus	brain
8	chr4:616600-617000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:616600-617000	Enhancers	Brain Anterior Caudate	brain
10	chr4:616800-624200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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