Variant report

Variant	rs579405
Chromosome Location	chr3:191130575-191130576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1066867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs167150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs169860	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188450	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs293799	1.00[CEU][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs293843	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs293845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293847	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs293855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs293860	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs297370	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs366693	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs485788	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs492470	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs510014	1.00[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs523100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs574206	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs695879	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191127400-191130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:191129000-191134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:191129400-191135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:191130000-191131000	Enhancers	NH-A	brain
5	chr3:191130000-191131200	Enhancers	HUVEC	blood vessel
6	chr3:191130000-191131400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:191130200-191130600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:191130200-191130800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:191130200-191131000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:191130200-191131000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:191130200-191131000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:191130200-191131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:191130200-191131000	Enhancers	HSMM	muscle
14	chr3:191130200-191131200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:191130200-191131400	Enhancers	NHEK	skin
16	chr3:191130200-191132800	Enhancers	NHDF-Ad	bronchial
17	chr3:191130400-191130800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:191130400-191130800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:191130400-191130800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:191130400-191131000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:191130400-191131000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:191130400-191131000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:191130400-191131000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:191130400-191131000	Enhancers	Hela-S3	cervix
25	chr3:191130400-191131000	Enhancers	HMEC	breast
26	chr3:191130400-191131000	Enhancers	Osteobl	bone
27	chr3:191130400-191131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:191130400-191132200	Enhancers	HSMMtube	muscle

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