Variant report

Variant	rs2300517
Chromosome Location	chr14:81447745-81447746
allele	C/T
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	GATA3	chr14:81447448-81447787	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81447196..81448849-chr14:81635444..81638287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258915	TF binding region
ENSG00000258999	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1035145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11850285	0.97[ASN][1000 genomes]
rs12147744	0.80[JPT][hapmap]
rs12586161	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12589960	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12590262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590682	0.81[JPT][hapmap]
rs12884630	0.85[JPT][hapmap]
rs12890859	0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs12892567	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2110695	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2160214	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2195101	0.81[GIH][hapmap]
rs2268453	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2268462	0.83[AMR][1000 genomes]
rs2268463	0.83[AMR][1000 genomes]
rs2268464	0.83[AMR][1000 genomes]
rs2268465	0.81[AMR][1000 genomes]
rs2284715	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2284716	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2284721	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284723	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2284725	0.99[ASN][1000 genomes]
rs2284728	0.99[ASN][1000 genomes]
rs2284729	0.85[AMR][1000 genomes]
rs2284731	0.85[AMR][1000 genomes]
rs2284732	0.85[AMR][1000 genomes]
rs2300516	0.83[YRI][hapmap]
rs2300518	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2300520	0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[ASN][1000 genomes]
rs327433	0.81[GIH][hapmap]
rs35789224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36193909	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3783944	0.83[AMR][1000 genomes]
rs3783946	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4411444	0.83[YRI][hapmap]
rs56169819	0.85[AMR][1000 genomes]
rs58729405	0.82[AMR][1000 genomes]
rs58838870	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59103962	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59627467	0.99[ASN][1000 genomes]
rs67130762	0.85[AMR][1000 genomes]
rs67256654	0.85[AMR][1000 genomes]
rs67391693	0.83[AMR][1000 genomes]
rs68104217	0.85[AMR][1000 genomes]
rs7149900	0.85[AMR][1000 genomes]
rs7150082	0.83[AMR][1000 genomes]
rs7154106	0.85[AMR][1000 genomes]
rs7154821	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72693081	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72693091	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8003402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003515	0.83[YRI][hapmap]
rs8007809	0.81[AMR][1000 genomes]
rs8022899	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2300517	SLCO2B1	trans	lymphoblastoid	seeQTL
rs2300517	IZUMO1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81444000-81447800	Weak transcription	Aorta	Aorta
2	chr14:81444000-81447800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:81444800-81447800	Weak transcription	Placenta	Placenta
4	chr14:81444800-81447800	Weak transcription	Psoas Muscle	Psoas
5	chr14:81446000-81448000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:81446800-81448000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:81447000-81451000	Genic enhancers	Dnd41	blood
8	chr14:81447200-81448200	Enhancers	Fetal Thymus	thymus
9	chr14:81447600-81448000	Enhancers	Colon Smooth Muscle	Colon
10	chr14:81447600-81448600	Enhancers	Thymus	Thymus

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