Variant report

Variant	rs1532247
Chromosome Location	chr3:141365775-141365776
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141364553..141367355-chr3:141371924..141373576,2	MCF-7	breast:
2	chr3:141287028..141289091-chr3:141363871..141366477,2	K562	blood:
3	chr3:141363991..141366083-chr3:141593724..141595545,2	K562	blood:
4	chr3:141364650..141368528-chr3:141456059..141460186,4	K562	blood:
5	chr3:141361497..141363664-chr3:141364151..141366468,2	MCF-7	breast:
6	chr3:141364236..141365914-chr3:141370366..141373121,2	MCF-7	breast:
7	chr3:141363993..141365921-chr3:141456988..141458727,2	MCF-7	breast:
8	chr3:141364533..141367449-chr3:141374437..141376349,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114125	Chromatin interaction
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12632759	0.86[ASN][1000 genomes]
rs13088397	0.93[ASN][1000 genomes]
rs1400685	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994845	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2640001	0.94[ASN][1000 genomes]
rs2640019	0.95[ASN][1000 genomes]
rs295294	0.95[ASN][1000 genomes]
rs295296	0.95[ASN][1000 genomes]
rs295314	0.91[ASN][1000 genomes]
rs295315	0.91[ASN][1000 genomes]
rs295317	0.93[ASN][1000 genomes]
rs34867571	0.95[ASN][1000 genomes]
rs4467426	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4634089	0.95[ASN][1000 genomes]
rs4683407	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683615	0.86[ASN][1000 genomes]
rs4683616	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59312699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6774986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6784270	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6784413	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6784623	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6791890	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6805124	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7618625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7627285	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7639695	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7642620	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7650428	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7653258	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs868767	0.85[ASN][1000 genomes]
rs868768	0.85[ASN][1000 genomes]
rs9289635	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289636	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289637	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9812758	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9841650	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9841805	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9861838	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141362600-141366400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:141363200-141371400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:141363800-141366600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:141364000-141366000	Weak transcription	Fetal Intestine Large	intestine
5	chr3:141364000-141368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:141364200-141366000	Weak transcription	Ovary	ovary
7	chr3:141364200-141369800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:141364400-141377600	Weak transcription	Aorta	Aorta
9	chr3:141365400-141365800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:141365400-141365800	Enhancers	Adipose Nuclei	Adipose
11	chr3:141365400-141366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:141365400-141366200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:141365400-141366800	Enhancers	K562	blood
14	chr3:141365600-141365800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:141365600-141365800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:141365600-141365800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:141365600-141365800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:141365600-141365800	Enhancers	Placenta	Placenta
19	chr3:141365600-141365800	Flanking Active TSS	HepG2	liver
20	chr3:141365600-141365800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr3:141365600-141366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:141365600-141366400	Enhancers	Fetal Intestine Small	intestine
23	chr3:141365600-141366400	Enhancers	Fetal Lung	lung
24	chr3:141365600-141366400	Enhancers	HSMMtube	muscle

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