Variant report

Variant	rs72869179
Chromosome Location	chr2:151534445-151534446
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	chr2:151533248..151535265-chr2:151536631..151538715,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12104957	0.85[ASN][1000 genomes]
rs16828387	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16828502	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16828562	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828581	0.95[EUR][1000 genomes]
rs4664737	0.85[ASN][1000 genomes]
rs6731904	0.95[ASN][1000 genomes]
rs6739921	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751079	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867428	0.85[ASN][1000 genomes]
rs72867442	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72867459	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72867486	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72869138	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869146	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869148	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869150	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869151	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869154	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869176	0.91[ASN][1000 genomes]
rs72869182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869196	0.86[EUR][1000 genomes]
rs72870904	0.85[ASN][1000 genomes]
rs7578593	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv2756950	chr2:151502539-151749973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv834416	chr2:151517784-151699912	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151530600-151535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:151532000-151534600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:151532400-151535800	Weak transcription	NHDF-Ad	bronchial
4	chr2:151532600-151534800	Enhancers	Fetal Intestine Large	intestine
5	chr2:151532600-151535400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:151532800-151534800	Enhancers	Fetal Intestine Small	intestine
7	chr2:151533400-151534600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:151533400-151534600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:151533400-151535400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:151533400-151535400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:151533400-151535400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:151533600-151534600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:151533600-151535400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:151533800-151536200	Weak transcription	Right Atrium	heart
15	chr2:151534000-151534600	Enhancers	Liver	Liver
16	chr2:151534400-151534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:151534400-151535400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:151534400-151557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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