Variant report

Variant	rs1630239
Chromosome Location	chr2:47408921-47408922
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	chr2:47371777..47374360-chr2:47408345..47411156,2	MCF-7	breast:
2	chr2:47406999..47409780-chr2:47499066..47501901,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11125126	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1404770	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1693863	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693864	0.94[ASN][1000 genomes]
rs1693882	0.84[ASN][1000 genomes]
rs1723482	0.88[ASN][1000 genomes]
rs1723484	0.82[ASN][1000 genomes]
rs1995108	0.97[ASN][1000 genomes]
rs2454082	0.87[ASN][1000 genomes]
rs2454083	0.87[ASN][1000 genomes]
rs2462588	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2462589	0.97[ASN][1000 genomes]
rs6713934	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751198	0.96[ASN][1000 genomes]
rs7581908	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7606478	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815802	0.88[ASN][1000 genomes]
rs815809	0.82[AMR][1000 genomes]
rs815815	0.88[ASN][1000 genomes]
rs815816	0.81[ASN][1000 genomes]
rs815817	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878665	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47404200-47410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47404400-47418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47404600-47416400	Weak transcription	HSMMtube	muscle
4	chr2:47404600-47417200	Weak transcription	Placenta	Placenta
5	chr2:47404800-47411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:47404800-47411000	Weak transcription	NH-A	brain
7	chr2:47404800-47416400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:47405200-47411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:47405400-47416400	Weak transcription	Fetal Intestine Large	intestine
10	chr2:47406800-47409600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:47406800-47411800	Weak transcription	NHEK	skin
12	chr2:47406800-47412000	Weak transcription	K562	blood
13	chr2:47406800-47412400	Weak transcription	A549	lung
14	chr2:47406800-47413600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:47408000-47409000	Enhancers	NHDF-Ad	bronchial

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