Variant report

Variant	rs12629589
Chromosome Location	chr3:156994860-156994861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156988336..156991271-chr3:156994407..156996753,2	K562	blood:
2	chr3:156987878..156990782-chr3:156994349..156996892,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10460861	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10513508	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10936074	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10936075	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10936078	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10936080	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10936081	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12489453	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12489799	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12490836	0.83[ASN][1000 genomes]
rs12493531	0.85[AMR][1000 genomes]
rs12495519	0.81[EUR][1000 genomes]
rs12496051	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12632525	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12632562	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12633429	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12634818	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12635316	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1403104	0.81[AMR][1000 genomes]
rs1403106	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403108	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1500924	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1522392	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1568611	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16827318	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16827352	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16827483	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2047648	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2321742	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2874616	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35910014	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4679788	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4679789	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680349	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4680352	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680354	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55949516	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55953639	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56143236	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56150358	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56313302	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59279023	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61149035	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276490	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276491	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276495	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276496	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276497	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62276501	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276502	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276504	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276505	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276528	0.85[AMR][1000 genomes]
rs62278575	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62281377	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62281379	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62281383	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6768074	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6780205	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6799567	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73154657	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73154659	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73154671	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73154682	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610214	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7619892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626589	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7631257	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7648599	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7649737	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7652298	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs949854	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv877687	chr3:156924793-157044184	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156967200-157000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:156967200-157000000	Weak transcription	NH-A	brain
3	chr3:156967200-157007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:156979600-156997000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:156982400-156997000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:156984200-156998200	Weak transcription	HUVEC	blood vessel
7	chr3:156988000-157005800	Weak transcription	Pancreas	Pancrea
8	chr3:156989400-156999800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:156991800-156995200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:156992000-156996800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:156992600-157000200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:156993800-156995400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr3:156994000-157000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:156994200-156997000	Weak transcription	Osteobl	bone
15	chr3:156994200-156997200	Weak transcription	NHDF-Ad	bronchial
16	chr3:156994200-156998800	Weak transcription	HSMM	muscle
17	chr3:156994400-156998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:156994400-156998000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:156994400-156998000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:156994600-156998600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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