Variant report

Variant	rs2304067
Chromosome Location	chr5:147276404-147276405
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	chr5:147274175..147276959-chr5:147278370..147280406,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10477355	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956228	0.90[ASN][1000 genomes]
rs11958481	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432973	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17107413	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107421	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17625543	0.86[ASN][1000 genomes]
rs17703848	0.90[ASN][1000 genomes]
rs1835968	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580505	0.92[AFR][1000 genomes]
rs6580506	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6580507	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6859879	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6862197	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889356	0.87[AFR][1000 genomes]
rs73263247	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706789	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7722416	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7722926	0.86[AMR][1000 genomes];0.98[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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv329560	chr5:147269326-147278710	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147272800-147278400	Weak transcription	Stomach Mucosa	stomach
2	chr5:147272800-147279600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:147273000-147278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:147273000-147280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:147273200-147278000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:147273200-147280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:147273400-147276800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:147273400-147277400	Weak transcription	NH-A	brain
9	chr5:147273400-147278200	Weak transcription	Osteobl	bone
10	chr5:147273400-147278800	Weak transcription	Aorta	Aorta
11	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
12	chr5:147273600-147277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:147273800-147277800	Weak transcription	HMEC	breast
14	chr5:147274000-147278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:147274200-147278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:147274200-147278200	Weak transcription	NHEK	skin
17	chr5:147275600-147278200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:147275600-147278200	Weak transcription	HUVEC	blood vessel
19	chr5:147275600-147283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:147275800-147277000	Weak transcription	Hela-S3	cervix
21	chr5:147276200-147280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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