Variant report

Variant	rs4862591
Chromosome Location	chr4:186832621-186832622
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	chr4:186820217..186823204-chr4:186830099..186832969,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10002348	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10012858	0.94[ASN][1000 genomes]
rs10013071	0.82[ASN][1000 genomes]
rs10016827	0.80[ASN][1000 genomes]
rs10021784	0.90[ASN][1000 genomes]
rs11132362	0.92[ASN][1000 genomes]
rs11729474	0.90[ASN][1000 genomes]
rs11733555	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11735211	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12650520	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1454745	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1809174	0.92[ASN][1000 genomes]
rs2034787	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2278938	0.84[ASN][1000 genomes]
rs28459616	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28674702	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4241812	0.98[ASN][1000 genomes]
rs4862589	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4862590	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4862592	0.98[ASN][1000 genomes]
rs4862595	0.91[ASN][1000 genomes]
rs6833156	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6838311	0.91[ASN][1000 genomes]
rs6847341	0.84[ASN][1000 genomes]
rs6848267	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs724072	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7656292	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7672190	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186824200-186832800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:186830800-186835000	Enhancers	Hela-S3	cervix
3	chr4:186831600-186832800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:186831600-186834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:186831600-186835800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:186831600-186837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:186831800-186834000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:186831800-186834000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:186832000-186834400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:186832600-186834800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:186832600-186836200	Enhancers	Osteobl	bone

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