Variant report

Variant	rs28945079
Chromosome Location	chr7:16851500-16851501
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16839844..16843226-chr7:16849835..16853685,4	MCF-7	breast:
2	chr7:16847748..16852819-chr7:16884544..16888713,8	MCF-7	breast:
3	chr7:16849977..16852539-chr7:16919446..16921847,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173467	Chromatin interaction
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10085446	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10224320	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10252977	0.97[ASN][1000 genomes]
rs10499476	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12665886	0.94[ASN][1000 genomes]
rs12665957	0.94[ASN][1000 genomes]
rs12667956	0.82[ASN][1000 genomes]
rs12672294	0.94[ASN][1000 genomes]
rs12672301	0.94[ASN][1000 genomes]
rs12672400	0.94[ASN][1000 genomes]
rs12674385	0.85[ASN][1000 genomes]
rs13229262	0.93[ASN][1000 genomes]
rs13437970	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17136670	0.94[ASN][1000 genomes]
rs17150186	0.94[ASN][1000 genomes]
rs17629719	0.93[ASN][1000 genomes]
rs28945075	0.85[ASN][1000 genomes]
rs3757454	0.94[ASN][1000 genomes]
rs3757455	0.94[ASN][1000 genomes]
rs3807501	0.94[ASN][1000 genomes]
rs3807502	0.94[ASN][1000 genomes]
rs3807503	0.94[ASN][1000 genomes]
rs3817502	0.94[ASN][1000 genomes]
rs3817505	0.94[ASN][1000 genomes]
rs3817506	0.91[ASN][1000 genomes]
rs3817507	0.91[ASN][1000 genomes]
rs3817508	0.90[ASN][1000 genomes]
rs3817509	0.91[ASN][1000 genomes]
rs3817510	0.94[ASN][1000 genomes]
rs3817512	0.93[ASN][1000 genomes]
rs3823653	0.94[ASN][1000 genomes]
rs55824063	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56291875	0.94[ASN][1000 genomes]
rs57997528	0.94[ASN][1000 genomes]
rs61130271	0.95[ASN][1000 genomes]
rs62440423	0.94[ASN][1000 genomes]
rs62440424	0.91[ASN][1000 genomes]
rs62440425	0.94[ASN][1000 genomes]
rs62440459	0.95[ASN][1000 genomes]
rs73073559	0.94[ASN][1000 genomes]
rs73078122	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73078127	0.85[ASN][1000 genomes]
rs73078130	0.82[AMR][1000 genomes];0.85[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	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv887764	chr7:16839835-17218800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	16 gene(s)	inside rSNPs	diseases
5	nsv887765	chr7:16839835-17750811	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1027284	chr7:16849986-17008167	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16844600-16854800	Weak transcription	Small Intestine	intestine
2	chr7:16845400-16852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:16845400-16852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16848000-16858200	Enhancers	Stomach Mucosa	stomach
5	chr7:16849400-16853400	Enhancers	Fetal Intestine Large	intestine
6	chr7:16849400-16853400	Enhancers	Fetal Intestine Small	intestine
7	chr7:16849400-16857600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:16849600-16852200	Flanking Active TSS	A549	lung
9	chr7:16850200-16851600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:16850800-16851800	Enhancers	Hela-S3	cervix
11	chr7:16850800-16854600	Weak transcription	HMEC	breast
12	chr7:16851000-16851800	Enhancers	NH-A	brain
13	chr7:16851000-16851800	Enhancers	NHDF-Ad	bronchial
14	chr7:16851000-16852000	Enhancers	HUVEC	blood vessel
15	chr7:16851000-16852400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:16851000-16852800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:16851000-16852800	Enhancers	Osteobl	bone
18	chr7:16851200-16851600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr7:16851400-16851600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:16851400-16851600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:16851400-16851800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr7:16851400-16851800	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:16851400-16854400	Weak transcription	Duodenum Mucosa	Duodenum

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