Variant report

Variant	rs6813562
Chromosome Location	chr4:121684267-121684268
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	chr4:121684074-121684274	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PRDM5	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]
rs10006287	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs10026533	0.80[ASN][1000 genomes]
rs1015219	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1033096	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518380	0.84[JPT][hapmap]
rs11943025	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12499586	0.91[ASN][1000 genomes]
rs12499872	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12507367	0.80[ASN][1000 genomes]
rs12513227	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12639772	0.83[CHB][hapmap]
rs1397768	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1397769	0.84[ASN][1000 genomes]
rs1397771	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1397773	0.89[ASN][1000 genomes]
rs1397774	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1450461	0.81[CHB][hapmap]
rs1463785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496260	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511302	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1511311	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1588524	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs168226	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17051240	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs17051244	0.81[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs17051252	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17051254	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17051259	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17051275	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs1849075	0.89[ASN][1000 genomes]
rs1849076	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2136999	0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2167208	0.83[CHB][hapmap]
rs343182	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs343185	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs343189	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs3789139	0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs3804170	0.87[ASN][1000 genomes]
rs3804175	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833182	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4833670	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4833671	0.89[ASN][1000 genomes]
rs4833672	0.83[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4833689	0.86[JPT][hapmap]
rs6844159	0.85[CHB][hapmap]
rs6855578	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs72678303	0.89[ASN][1000 genomes]
rs72678309	0.89[ASN][1000 genomes]
rs896060	0.83[CHB][hapmap];0.86[JPT][hapmap]

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	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	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:121668400-121690400	Weak transcription	Osteobl	bone
3	chr4:121671800-121697000	Weak transcription	Pancreas	Pancrea
4	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
5	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
6	chr4:121672400-121690400	Weak transcription	Lung	lung
7	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
8	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
9	chr4:121673000-121690200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:121673000-121697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:121673000-121705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:121673200-121685600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:121673200-121690400	Weak transcription	Fetal Lung	lung
16	chr4:121673400-121690400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:121673600-121692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:121675400-121693000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:121677000-121702800	Weak transcription	Gastric	stomach
20	chr4:121677000-121707800	Weak transcription	Psoas Muscle	Psoas
21	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
22	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:121681600-121685600	Weak transcription	Fetal Heart	heart
25	chr4:121684200-121684800	Enhancers	Ovary	ovary

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