Variant report

Variant	rs6781120
Chromosome Location	chr3:133142760-133142761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:132439632..132442220-chr3:133141166..133143810,2	K562	blood:
2	chr3:132759801..132760742-chr3:133142128..133143076,4	K562	blood:
3	chr3:132254793..132255497-chr3:133142223..133143012,2	MCF-7	breast:
4	chr3:132759750..132760749-chr3:133142099..133143085,7	MCF-7	breast:
5	chr3:133105415..133106537-chr3:133142074..133142947,6	MCF-7	breast:
6	chr3:132444895..132445778-chr3:133142129..133143849,5	K562	blood:
7	chr3:132450051..132450561-chr3:133142135..133143010,2	MCF-7	breast:
8	chr3:133103081..133103646-chr3:133142086..133142975,2	MCF-7	breast:
9	chr3:132440764..132443232-chr3:133142306..133144547,2	MCF-7	breast:
10	chr3:132449765..132450613-chr3:133142265..133142889,2	K562	blood:
11	chr3:132759782..132760302-chr3:133142211..133142884,2	MCF-7	breast:
12	chr3:132445024..132445748-chr3:133142162..133143068,3	MCF-7	breast:
13	chr3:132450041..132450545-chr3:133142532..133143079,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248724	Chromatin interaction
ENSG00000144868	Chromatin interaction
ENSG00000113971	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10935062	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10935063	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11707603	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13073286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1871356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1871357	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2086254	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2293601	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2370243	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370244	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615290	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887689	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887690	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4133679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4286432	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4635703	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55751745	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6781394	1.00[ASN][1000 genomes]
rs6804296	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7427918	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820011	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9853488	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858482	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858615	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858947	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9877839	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877504	chr3:133122216-133172374	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591820	chr3:133134361-133143318	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv522281	chr3:133137434-133167363	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007047	chr3:133137664-133181388	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1006289	chr3:133137664-133186808	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133141800-133143000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:133141800-133143000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:133142200-133142800	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr3:133142200-133144600	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:133142400-133142800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr3:133142400-133142800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:133142400-133142800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:133142400-133142800	Enhancers	Fetal Muscle Trunk	muscle
9	chr3:133142400-133142800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr3:133142400-133142800	Enhancers	Placenta	Placenta
11	chr3:133142400-133142800	Flanking Active TSS	Osteobl	bone
12	chr3:133142600-133142800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:133142600-133142800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:133142600-133142800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:133142600-133142800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr3:133142600-133142800	Enhancers	Liver	Liver
17	chr3:133142600-133142800	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr3:133142600-133142800	Enhancers	Esophagus	oesophagus
19	chr3:133142600-133142800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr3:133142600-133143000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:133142600-133143000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:133142600-133143000	Enhancers	Fetal Brain Male	brain
23	chr3:133142600-133143000	Enhancers	Fetal Thymus	thymus
24	chr3:133142600-133143000	Bivalent Enhancer	Thymus	Thymus
25	chr3:133142600-133143000	Enhancers	HSMMtube	muscle
26	chr3:133142600-133144200	Enhancers	GM12878-XiMat	blood

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