Variant report

Variant	rs2300020
Chromosome Location	chr7:107958092-107958093
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	chr7:107957322..107958981-chr7:107984957..107986553,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12534519	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12537209	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16872497	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16872517	0.95[AMR][1000 genomes]
rs17155397	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17155405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17155446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155536	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17155579	0.82[ASN][1000 genomes]
rs17155592	0.95[AMR][1000 genomes]
rs2024491	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2300031	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56100765	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59164222	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6944131	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73420238	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73714833	0.86[ASN][1000 genomes]
rs7792869	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7794233	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7811595	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7812138	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	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	5 gene(s)	inside rSNPs	diseases
7	nsv1019059	chr7:107935905-107995523	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1021783	chr7:107935905-107998281	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2761354	chr7:107935905-107998293	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031824	chr7:107935905-108006038	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017288	chr7:107939739-108000837	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107940400-107964400	Weak transcription	Pancreas	Pancrea
2	chr7:107948000-107965200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:107950800-107962800	Weak transcription	Brain Anterior Caudate	brain
4	chr7:107951400-107963000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:107952600-107963000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:107952600-107963600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:107952600-107965200	Weak transcription	A549	lung
8	chr7:107953400-107968600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:107954000-107967200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:107955200-107958800	Weak transcription	HUVEC	blood vessel
11	chr7:107956400-107958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:107956600-107962000	Weak transcription	Fetal Lung	lung
13	chr7:107957600-107961200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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