Variant report

Variant	rs2288781
Chromosome Location	chr5:147272549-147272550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147272144..147273653-chr5:147300672..147302249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250346	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12171506	0.81[ASN][1000 genomes]
rs1432971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1432973	0.90[AFR][1000 genomes]
rs17107421	0.91[AFR][1000 genomes]
rs17717793	0.81[ASN][1000 genomes]
rs2288780	0.89[ASN][1000 genomes]
rs6580504	0.85[EUR][1000 genomes]
rs6580505	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6865419	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6889356	0.85[EUR][1000 genomes]
rs6890965	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7715834	0.81[ASN][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147262600-147272600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:147262800-147275600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:147267600-147272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:147267800-147273000	Weak transcription	Right Ventricle	heart
5	chr5:147270400-147273000	Weak transcription	Aorta	Aorta
6	chr5:147271400-147274200	Enhancers	Hela-S3	cervix
7	chr5:147271600-147273200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:147271600-147273400	Enhancers	Osteobl	bone
9	chr5:147271600-147274600	Enhancers	HUVEC	blood vessel
10	chr5:147271800-147272800	Enhancers	Stomach Mucosa	stomach
11	chr5:147271800-147273400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:147272000-147273800	Enhancers	HMEC	breast
13	chr5:147272000-147275200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:147272200-147272600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:147272200-147272600	Weak transcription	Placenta	Placenta
16	chr5:147272200-147272800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:147272200-147272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:147272200-147272800	Enhancers	NH-A	brain
19	chr5:147272200-147273000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:147272200-147273200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:147272200-147273600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:147272200-147274000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:147272200-147274200	Enhancers	NHEK	skin
24	chr5:147272400-147273000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:147272400-147273200	Enhancers	Pancreas	Pancrea
26	chr5:147272400-147273600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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