Variant report

Variant	rs11997518
Chromosome Location	chr8:68478337-68478338
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	GATA3	chr8:68477066-68478419	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68476861..68478978-chr8:68481849..68483668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254253	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10085934	0.95[ASN][1000 genomes]
rs10086148	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs10091234	0.86[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808754	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs10808755	0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11781284	0.84[ASN][1000 genomes]
rs12056769	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679715	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12680940	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12681928	0.95[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs12682475	0.95[ASN][1000 genomes]
rs13265827	0.95[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs13266610	0.94[ASN][1000 genomes]
rs13268227	0.95[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs13277276	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503370	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs1545824	0.86[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap]
rs1809438	0.86[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2086540	0.81[ASN][1000 genomes]
rs2128105	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs34765332	0.94[ASN][1000 genomes]
rs392092	0.86[CEU][hapmap];0.91[CHB][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs406796	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs421352	0.83[ASW][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs448546	0.94[ASN][1000 genomes]
rs4737846	0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs5008275	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610372	0.83[ASN][1000 genomes]
rs6472320	1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7002461	0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs7005868	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7007047	0.90[ASN][1000 genomes]
rs7007331	1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs729407	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs729408	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814309	0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.92[TSI][hapmap];0.86[ASN][1000 genomes]
rs7818863	0.90[ASN][1000 genomes]
rs7832751	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs7836691	0.89[ASN][1000 genomes]
rs900116	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs900117	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs900118	0.89[ASN][1000 genomes]
rs900119	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs900899	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs9657034	0.86[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs9657086	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs9657087	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs9657088	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs9772671	0.83[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3481182	chr8:68478161-68478416	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3481183	chr8:68478175-68478414	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68470400-68482200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:68473200-68480000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:68476200-68478800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:68478000-68480200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:68478200-68478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:68478200-68478600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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