Variant report

Variant	rs6446206
Chromosome Location	chr3:50455470-50455471
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	ZNF263	chr3:50455236-50455565	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50450589..50453159-chr3:50453865..50456485,2	K562	blood:
2	chr1:19922789..19925060-chr3:50453288..50455682,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP131	TF binding region
ENSG00000270136	Chromatin interaction
ENSG00000235185	Chromatin interaction
ENSG00000173436	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1107265	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130250	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12490042	0.86[EUR][1000 genomes]
rs12492113	0.82[AMR][1000 genomes]
rs12494849	0.81[EUR][1000 genomes]
rs13087550	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13099869	0.82[EUR][1000 genomes]
rs1467914	0.81[EUR][1000 genomes]
rs2027854	0.82[AMR][1000 genomes]
rs2073496	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236953	0.85[EUR][1000 genomes]
rs2236954	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236955	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236956	0.86[EUR][1000 genomes]
rs2236957	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236958	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2236961	0.89[EUR][1000 genomes]
rs2236962	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236963	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236964	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236965	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236967	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236968	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236971	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2236973	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236975	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2236979	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236981	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236983	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2236984	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236987	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2236988	0.82[EUR][1000 genomes]
rs2282752	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282753	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2282754	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2282756	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2282758	0.85[EUR][1000 genomes]
rs2282760	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2282762	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2298955	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4688719	0.82[EUR][1000 genomes]
rs4688720	0.82[EUR][1000 genomes]
rs6786523	0.81[EUR][1000 genomes]
rs6788459	0.82[AMR][1000 genomes]
rs71326932	0.85[EUR][1000 genomes]
rs734767	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs743756	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743757	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs743857	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs762895	0.86[EUR][1000 genomes]
rs762897	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs762898	0.84[EUR][1000 genomes]
rs916217	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs929047	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9835537	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv876778	chr3:50413707-50465518	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50443600-50460400	Weak transcription	Gastric	stomach
2	chr3:50445600-50471400	Weak transcription	Spleen	Spleen
3	chr3:50448800-50461000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:50449600-50461400	Weak transcription	Lung	lung
5	chr3:50450600-50471000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:50451600-50456400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:50451600-50456600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:50452200-50456200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:50452600-50456200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:50452800-50455600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:50453000-50456000	Weak transcription	Fetal Stomach	stomach
12	chr3:50454000-50455800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:50454400-50460200	Weak transcription	Brain Anterior Caudate	brain
14	chr3:50454800-50456600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:50454800-50456600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:50454800-50457600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50455000-50455600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:50455200-50455600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr3:50455200-50455800	Enhancers	NHEK	skin
20	chr3:50455200-50457200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:50455400-50455600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:50455400-50455600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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