Variant report

Variant	rs1809075
Chromosome Location	chr4:121746830-121746831
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	STAT3	chr4:121746814-121747014	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121745652..121748462-chr4:121750150..121752192,2	MCF-7	breast:

Variant related genes	Relation type
PRDM5	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10006287	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10026533	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1015219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518380	0.91[ASN][1000 genomes]
rs11098586	0.88[ASN][1000 genomes]
rs12499586	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12499872	0.81[ASN][1000 genomes]
rs12501914	0.91[ASN][1000 genomes]
rs12503895	0.91[ASN][1000 genomes]
rs12507367	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12510578	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12511422	0.81[ASN][1000 genomes]
rs12513227	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12639719	0.81[ASN][1000 genomes]
rs12640648	0.81[ASN][1000 genomes]
rs12644850	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12644883	0.81[ASN][1000 genomes]
rs1349347	0.84[AFR][1000 genomes]
rs1376099	0.84[AFR][1000 genomes]
rs1397768	0.80[AMR][1000 genomes]
rs1397769	0.80[AMR][1000 genomes]
rs1397771	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1397773	0.80[AMR][1000 genomes]
rs1397774	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1450461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450462	0.84[AFR][1000 genomes]
rs1511302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1588524	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597491	0.81[ASN][1000 genomes]
rs168226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051240	0.80[AMR][1000 genomes]
rs17051244	0.80[AMR][1000 genomes]
rs17051252	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17051254	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17051259	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17051271	0.91[ASN][1000 genomes]
rs17051275	0.81[ASN][1000 genomes]
rs171068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849075	0.80[AMR][1000 genomes]
rs2136997	0.84[AFR][1000 genomes]
rs2136999	0.80[AMR][1000 genomes]
rs2597537	0.84[AFR][1000 genomes]
rs2597538	0.84[AFR][1000 genomes]
rs2597540	0.84[AFR][1000 genomes]
rs2667171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667172	0.84[AFR][1000 genomes]
rs2667173	0.84[AFR][1000 genomes]
rs28488919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28810489	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs343181	0.84[AFR][1000 genomes]
rs343182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs343184	0.84[AFR][1000 genomes]
rs343185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789139	0.80[AMR][1000 genomes]
rs3804170	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804175	0.85[ASN][1000 genomes]
rs3827584	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833182	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833671	0.80[AMR][1000 genomes]
rs4833672	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4833688	0.88[ASN][1000 genomes]
rs4833689	0.91[ASN][1000 genomes]
rs57023921	0.81[ASN][1000 genomes]
rs6855578	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72678303	0.80[AMR][1000 genomes]
rs72678309	0.80[AMR][1000 genomes]
rs72678319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72678324	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72678335	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72680418	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680432	0.91[ASN][1000 genomes]
rs72680433	0.91[ASN][1000 genomes]
rs72680438	0.91[ASN][1000 genomes]
rs72680440	0.91[ASN][1000 genomes]
rs72680445	0.91[ASN][1000 genomes]
rs72680451	0.88[ASN][1000 genomes]
rs72680462	0.81[ASN][1000 genomes]
rs72680468	0.81[ASN][1000 genomes]
rs72680474	0.81[ASN][1000 genomes]
rs72680476	0.81[ASN][1000 genomes]
rs72680477	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994831	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121730200-121753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
5	chr4:121731200-121752400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:121732000-121747600	Weak transcription	Fetal Lung	lung
7	chr4:121732200-121754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:121737400-121751400	Weak transcription	Psoas Muscle	Psoas
9	chr4:121737600-121759800	Weak transcription	Lung	lung
10	chr4:121737800-121754400	Weak transcription	Aorta	Aorta
11	chr4:121738200-121759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:121738800-121750600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:121743600-121750000	Weak transcription	Fetal Heart	heart
14	chr4:121743800-121765400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:121745200-121751400	Weak transcription	Left Ventricle	heart
16	chr4:121746200-121748000	Enhancers	Fetal Intestine Small	intestine
17	chr4:121746600-121747200	Enhancers	Fetal Intestine Large	intestine
18	chr4:121746600-121748000	Enhancers	Ovary	ovary
19	chr4:121746800-121747200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:121746800-121747200	Enhancers	Small Intestine	intestine
21	chr4:121746800-121747200	Weak transcription	Spleen	Spleen
22	chr4:121746800-121747800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:121746800-121748400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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