Variant report

Variant	rs73216739
Chromosome Location	chr4:10686114-10686115
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	POLR2A	chr4:10686033-10686805	GM12892	blood:	n/a	n/a
2	POLR2A	chr4:10685527-10686857	GM12892	blood:	n/a	n/a
3	POLR2A	chr4:10686061-10686773	GM12891	blood:	n/a	n/a
4	PML	chr4:10686047-10686809	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:10684654-10686878	GM12892	blood:	n/a	n/a
6	POLR2A	chr4:10684786-10686803	GM12878	blood:	n/a	n/a
7	MTA3	chr4:10686087-10686837	GM12878	blood:	n/a	n/a
8	MXI1	chr4:10685956-10686772	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:10684840-10686782	GM18951	blood:	n/a	n/a
10	POLR2A	chr4:10684759-10686860	GM19099	blood:	n/a	n/a
11	POLR2A	chr4:10686000-10686828	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:10685497-10686805	GM18526	blood:	n/a	n/a
13	POLR2A	chr4:10684706-10686868	GM12891	blood:	n/a	n/a
14	POLR2A	chr4:10685952-10686747	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:10685658-10686878	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:10686073-10686648	GM12891	blood:	n/a	n/a
17	BHLHE40	chr4:10686112-10686685	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:10684761-10686827	GM12892	blood:	n/a	n/a
19	MTA3	chr4:10686103-10686776	GM12878	blood:	n/a	n/a
20	BCLAF1	chr4:10686081-10686796	GM12878	blood:	n/a	n/a
21	FOXM1	chr4:10686100-10686665	GM12878	blood:	n/a	n/a
22	RELA	chr4:10685952-10686792	GM18951	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000249334	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs34154140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794270	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61794271	0.84[ASN][1000 genomes]
rs61794272	0.88[ASN][1000 genomes]
rs61794274	0.88[ASN][1000 genomes]
rs61794275	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61794276	0.88[ASN][1000 genomes]
rs61794277	0.96[ASN][1000 genomes]
rs61796844	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61796845	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6813206	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6830367	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73216726	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73216749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216755	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73216759	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73216761	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
3	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
5	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
7	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
8	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
9	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
10	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv878697	chr4:10501373-10831866	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv829860	chr4:10598743-10764854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr4:10683600-10691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:10685000-10686200	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:10685000-10686200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:10685000-10686800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr4:10685000-10688200	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:10685600-10686600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:10685800-10686800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:10686000-10686600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:10686000-10686800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr4:10686000-10687000	Flanking Active TSS	GM12878-XiMat	blood

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