Variant report

Variant	rs8134246
Chromosome Location	chr21:17926550-17926551
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	chr21:17924356..17926618-chr21:17958944..17960666,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2823848	0.85[CHB][hapmap]
rs2823850	0.82[CHB][hapmap]
rs2823851	0.82[CHB][hapmap]
rs2823863	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2823871	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2823874	0.90[ASN][1000 genomes]
rs2823876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823878	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2823881	0.82[CHB][hapmap]
rs2823884	0.85[CHB][hapmap]
rs2823892	0.82[CHB][hapmap]
rs28647658	0.83[ASN][1000 genomes]
rs6517704	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8127633	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8128087	1.00[ASN][1000 genomes]
rs8131578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9980715	1.00[ASN][1000 genomes]
rs9982229	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17909600-17926800	Weak transcription	Fetal Kidney	kidney
2	chr21:17909800-17926600	Weak transcription	Fetal Heart	heart
3	chr21:17909800-17927000	Weak transcription	Left Ventricle	heart
4	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
5	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr21:17910600-17928600	Weak transcription	Liver	Liver
7	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
9	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
11	chr21:17912800-17928400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:17916200-17926800	Weak transcription	Fetal Lung	lung
13	chr21:17916200-17927000	Weak transcription	Ovary	ovary
14	chr21:17916200-17931800	Weak transcription	Fetal Brain Female	brain
15	chr21:17916400-17926800	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:17916400-17927000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:17918000-17935600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:17918400-17927800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17918400-17928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:17918600-17935800	Weak transcription	Fetal Stomach	stomach
21	chr21:17919000-17935800	Weak transcription	HSMMtube	muscle
22	chr21:17922400-17927400	Enhancers	HUVEC	blood vessel
23	chr21:17922800-17935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:17923800-17926800	Weak transcription	Right Atrium	heart
25	chr21:17923800-17927800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:17923800-17942000	Weak transcription	Right Ventricle	heart
27	chr21:17924000-17926800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr21:17924000-17935000	Weak transcription	HSMM	muscle
29	chr21:17924000-17935400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr21:17924200-17929800	Weak transcription	A549	lung
31	chr21:17924200-17941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:17924800-17926600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
34	chr21:17926000-17934400	Weak transcription	Hela-S3	cervix
35	chr21:17926200-17935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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