Variant report

Variant	rs10916122
Chromosome Location	chr1:227513033-227513034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227511186..227513689-chr1:227514220..227516640,3	K562	blood:
2	chr1:227511205..227513066-chr1:227516243..227518388,2	MCF-7	breast:
3	chr1:227512596..227514265-chr1:227521863..227524248,2	K562	blood:
4	chr1:227510287..227513038-chr1:227518818..227521633,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10495255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10737428	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753433	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10916118	0.90[ASN][1000 genomes]
rs12035986	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12044287	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12137591	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12565871	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12569227	0.90[ASN][1000 genomes]
rs2102638	0.85[ASN][1000 genomes]
rs2953638	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2953652	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2953655	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3014252	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3014253	0.86[CHB][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap]
rs3014256	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3014267	0.83[JPT][hapmap]
rs34084723	0.90[ASN][1000 genomes]
rs34875093	0.90[ASN][1000 genomes]
rs3795457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4339829	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs4653812	0.81[ASN][1000 genomes]
rs4653823	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653824	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653825	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60197034	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6656653	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6682120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684784	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700730	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72759337	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7516326	0.90[ASN][1000 genomes]
rs7537038	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10916122	TAF1A	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227507000-227515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:227507200-227518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:227509400-227516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:227510400-227516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:227511600-227515600	Weak transcription	Liver	Liver
6	chr1:227511600-227518000	Weak transcription	K562	blood
7	chr1:227512000-227516400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:227512000-227523200	Weak transcription	Stomach Mucosa	stomach

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