Variant report

Variant	rs8121573
Chromosome Location	chr20:24675605-24675606
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	chr20:24629448..24631960-chr20:24674530..24677062,2	MCF-7	breast:
2	chr20:24671696..24673797-chr20:24673883..24676356,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11697449	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11697715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11698940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11699014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11907830	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs226666	1.00[YRI][hapmap]
rs6106930	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114836	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs729541	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs73106743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73106747	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73106757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73106763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106768	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73106770	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8114991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524920	chr20:24639916-24683554	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1061537	chr20:24643869-24683649	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv585744	chr20:24647725-24685440	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24661400-24676000	Weak transcription	Fetal Kidney	kidney
2	chr20:24666600-24684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24672400-24677200	Enhancers	Fetal Thymus	thymus
4	chr20:24673800-24676600	Weak transcription	Thymus	Thymus
5	chr20:24674000-24676000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr20:24674200-24675800	Enhancers	Right Atrium	heart
7	chr20:24674200-24676200	Enhancers	Ovary	ovary
8	chr20:24674400-24677400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr20:24674600-24675800	Enhancers	Colon Smooth Muscle	Colon
10	chr20:24674600-24675800	Enhancers	Fetal Stomach	stomach
11	chr20:24674600-24676000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr20:24674600-24676600	Enhancers	Spleen	Spleen
13	chr20:24675000-24676200	Enhancers	Adipose Nuclei	Adipose
14	chr20:24675200-24675800	Enhancers	Stomach Smooth Muscle	stomach
15	chr20:24675200-24676000	Bivalent Enhancer	Fetal Lung	lung
16	chr20:24675400-24675800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr20:24675400-24675800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:24675400-24676200	Enhancers	Brain Cingulate Gyrus	brain
19	chr20:24675400-24676200	Enhancers	Brain Hippocampus Middle	brain
20	chr20:24675400-24676200	Enhancers	Osteobl	bone
21	chr20:24675400-24676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:24675600-24675800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:24675600-24675800	Enhancers	Fetal Intestine Large	intestine
24	chr20:24675600-24676000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:24675600-24676000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr20:24675600-24676200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr20:24675600-24676400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:24675600-24676400	Enhancers	Brain Substantia Nigra	brain
29	chr20:24675600-24676600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr20:24675600-24676800	Enhancers	HMEC	breast

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