Variant report

Variant	rs73713832
Chromosome Location	chr7:100917229-100917230
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	chr7:100917223-100917498	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100887858..100889403-chr7:100915187..100917506,2	K562	blood:
2	chr7:100912998..100915011-chr7:100915774..100918706,2	K562	blood:

Variant related genes	Relation type
RNU6-1104P	TF binding region
ENSG00000207454	Chromatin interaction
ENSG00000214253	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2410808	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2410809	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2410810	0.83[AFR][1000 genomes]
rs2898571	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35014285	0.83[AFR][1000 genomes]
rs56099342	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56212758	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56868599	0.87[AMR][1000 genomes]
rs57295609	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57422827	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58341321	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59619028	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59643242	0.87[AMR][1000 genomes]
rs60774938	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61069336	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61101688	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73713824	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73713827	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73713830	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73713831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv970917	chr7:100907928-100928609	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100914600-100921400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:100915000-100917400	Enhancers	Brain Germinal Matrix	brain
3	chr7:100916000-100917400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:100916000-100917400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:100916000-100917400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:100916200-100917400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:100916200-100918200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:100916200-100924800	Strong transcription	Liver	Liver
9	chr7:100916600-100925800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:100917000-100917400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr7:100917200-100917400	Enhancers	Brain Anterior Caudate	brain
12	chr7:100917200-100918600	Enhancers	Fetal Brain Male	brain
13	chr7:100917200-100920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:100917200-100932800	Weak transcription	H9 Cell Line	embryonic stem cell

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