Variant report

Variant	rs7579249
Chromosome Location	chr2:189338187-189338188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189336721..189339436-chr2:189342195..189344064,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12613370	0.81[ASN][1000 genomes]
rs34711211	0.81[ASN][1000 genomes]
rs35103373	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4278900	0.81[ASN][1000 genomes]
rs4292061	0.81[ASN][1000 genomes]
rs56110119	0.89[AFR][1000 genomes]
rs6434279	0.90[ASN][1000 genomes]
rs6711599	0.81[ASN][1000 genomes]
rs6723034	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72896867	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896889	1.00[ASN][1000 genomes]
rs72911485	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913317	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913357	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913372	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424417	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559636	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:189321800-189339000	Weak transcription	Fetal Stomach	stomach
4	chr2:189329000-189340600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:189330600-189346800	Weak transcription	Gastric	stomach
7	chr2:189330600-189356600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:189334600-189367600	Weak transcription	Fetal Lung	lung
9	chr2:189335800-189338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:189335800-189343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:189336600-189338800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:189336600-189344000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:189336800-189338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:189337600-189339600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:189337800-189338200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:189337800-189339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:189337800-189339800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:189338000-189338200	Weak transcription	Pancreas	Pancrea
19	chr2:189338000-189338600	Enhancers	Lung	lung
20	chr2:189338000-189339000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:189338000-189339400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:189338000-189339400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:189338000-189339400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:189338000-189340600	Weak transcription	NHLF	lung

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