Variant report

Variant	rs71557300
Chromosome Location	chr7:100936278-100936279
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	POLR2A	chr7:100936098-100938520	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:100936269-100938366	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100877402..100879348-chr7:100936060..100938109,2	K562	blood:
2	chr7:100782339..100784727-chr7:100935145..100937630,2	K562	blood:

Variant related genes	Relation type
AZGP1P2	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11544858	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223799	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225720	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234919	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235206	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13236755	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236818	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237170	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240188	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240202	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241519	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241528	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243964	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410815	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410818	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34048830	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34077348	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34169259	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34170365	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34306578	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331244	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434188	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34522084	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34530598	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532455	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34541954	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34579827	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34679185	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714336	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34761081	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34872936	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35259540	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35401614	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35427616	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594069	0.89[EUR][1000 genomes]
rs35614350	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35642062	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35653054	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710113	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35724850	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751380	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35757856	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785259	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35811165	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35835570	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36005187	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36060097	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36079227	1.00[ASN][1000 genomes]
rs56730418	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60697114	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66621600	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66711003	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67002599	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67502950	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67562697	0.80[EUR][1000 genomes]
rs67736913	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67922522	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67927345	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68015521	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968925	1.00[ASN][1000 genomes]
rs6968930	1.00[ASN][1000 genomes]
rs71540926	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557302	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71559403	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71559404	0.92[EUR][1000 genomes]
rs71559406	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410736	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781222	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791799	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868145	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691191	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692578	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	63 gene(s)	inside rSNPs	diseases
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1017098	chr7:100935631-101117541	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv539042	chr7:100935631-101117541	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71557300	RP11-132A1.4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100934200-100936400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:100934200-100936400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:100934200-100936400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:100934200-100936400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:100934200-100942600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:100935000-100936600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:100935200-100936400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:100935200-100936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:100935200-100937000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:100935200-100937800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:100935200-100937800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:100935600-100936400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:100935600-100936400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:100935600-100942400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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