Variant report

Variant	rs13417459
Chromosome Location	chr2:98739945-98739946
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	MAX	chr2:98739738-98740118	K562	blood:	n/a	chr2:98739866-98739877 chr2:98739867-98739876 chr2:98739866-98739875 chr2:98739867-98739877 chr2:98739865-98739878 chr2:98739865-98739880 chr2:98739867-98739877 chr2:98739867-98739876 chr2:98739866-98739876 chr2:98739865-98739878 chr2:98739863-98739878 chr2:98739866-98739877 chr2:98739868-98739875
2	MAX	chr2:98739526-98740489	NB4	blood:	n/a	chr2:98739866-98739877 chr2:98739867-98739876 chr2:98739553-98739563 chr2:98739866-98739875 chr2:98739867-98739877 chr2:98739865-98739878 chr2:98739865-98739880 chr2:98739867-98739877 chr2:98739867-98739876 chr2:98740124-98740131 chr2:98739866-98739876 chr2:98739865-98739878 chr2:98739863-98739878 chr2:98740123-98740132 chr2:98739866-98739877 chr2:98739868-98739875
3	MYC	chr2:98739671-98740188	NB4	blood:	n/a	chr2:98739866-98739877 chr2:98739867-98739876 chr2:98739866-98739875 chr2:98739867-98739877 chr2:98739865-98739878 chr2:98739865-98739880 chr2:98739867-98739877 chr2:98739867-98739876 chr2:98740124-98740131 chr2:98739866-98739876 chr2:98739865-98739878 chr2:98739863-98739878 chr2:98740123-98740132 chr2:98739866-98739877 chr2:98739868-98739875
4	RUNX3	chr2:98739803-98740172	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98739471..98741169-chr2:98745863..98748204,2	MCF-7	breast:

Variant related genes	Relation type
VWA3B	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10169441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200560	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204649	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207101	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207980	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs298917	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58097088	0.94[ASN][1000 genomes]
rs60884498	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6543280	0.94[ASN][1000 genomes]
rs6543290	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6729411	0.88[ASN][1000 genomes]
rs6733249	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6756742	0.94[ASN][1000 genomes]
rs6758614	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72946920	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355475	0.94[ASN][1000 genomes]
rs7591591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603879	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs921423	0.88[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	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv527817	chr2:98701043-98791433	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1014962	chr2:98704622-98795737	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv999736	chr2:98706669-98811075	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98732000-98743000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:98732400-98744200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:98736600-98756600	Weak transcription	Right Atrium	heart
4	chr2:98736800-98740200	Bivalent Enhancer	Fetal Stomach	stomach
5	chr2:98737600-98740200	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:98737600-98740400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:98738000-98745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:98738200-98743800	Weak transcription	Right Ventricle	heart
9	chr2:98738800-98740400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:98739000-98740400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:98739400-98740000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:98739600-98740000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:98739600-98740400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:98739600-98740400	Enhancers	Fetal Thymus	thymus
15	chr2:98739600-98740400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:98739600-98741000	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:98739600-98742800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:98739800-98740200	Enhancers	Dnd41	blood
19	chr2:98739800-98740200	Bivalent Enhancer	HSMMtube	muscle
20	chr2:98739800-98740400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:98739800-98740400	Enhancers	GM12878-XiMat	blood

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