Variant report

Variant	rs2823871
Chromosome Location	chr21:17923911-17923912
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17922083..17924811-chr21:17979948..17982331,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2823848	0.86[CHB][hapmap]
rs2823850	0.85[CHB][hapmap]
rs2823851	0.85[CHB][hapmap]
rs2823863	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823874	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823875	0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823876	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2823877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2823881	0.85[CHB][hapmap]
rs2823884	0.86[CHB][hapmap]
rs2823892	0.85[CHB][hapmap]
rs28647658	0.83[ASN][1000 genomes]
rs4816732	1.00[EUR][1000 genomes]
rs4818275	1.00[EUR][1000 genomes]
rs58962592	1.00[EUR][1000 genomes]
rs60906127	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7279589	1.00[EUR][1000 genomes]
rs7282899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73363505	1.00[EUR][1000 genomes]
rs73363512	1.00[EUR][1000 genomes]
rs73363533	1.00[EUR][1000 genomes]
rs73363538	1.00[EUR][1000 genomes]
rs73363542	1.00[EUR][1000 genomes]
rs73369498	1.00[EUR][1000 genomes]
rs73369769	1.00[EUR][1000 genomes]
rs73369789	1.00[EUR][1000 genomes]
rs73381666	1.00[EUR][1000 genomes]
rs73381670	1.00[EUR][1000 genomes]
rs73381672	1.00[EUR][1000 genomes]
rs8127633	0.88[ASN][1000 genomes]
rs8128087	1.00[ASN][1000 genomes]
rs8131578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134246	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9980715	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981734	1.00[EUR][1000 genomes]
rs9982229	0.86[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:47 , 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	chr21:17912400-17926400	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
12	chr21:17912800-17928400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr21:17916200-17926800	Weak transcription	Fetal Lung	lung
14	chr21:17916200-17927000	Weak transcription	Ovary	ovary
15	chr21:17916200-17931800	Weak transcription	Fetal Brain Female	brain
16	chr21:17916400-17926800	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:17916400-17927000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17918000-17935600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:17918400-17927800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr21:17918400-17928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:17918600-17935800	Weak transcription	Fetal Stomach	stomach
22	chr21:17919000-17935800	Weak transcription	HSMMtube	muscle
23	chr21:17922200-17924400	Weak transcription	NH-A	brain
24	chr21:17922400-17927400	Enhancers	HUVEC	blood vessel
25	chr21:17922600-17924000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:17922600-17924000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:17922600-17924000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr21:17922600-17924800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:17922800-17924000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr21:17922800-17924200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:17922800-17924200	Enhancers	A549	lung
32	chr21:17922800-17935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:17923200-17924000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr21:17923200-17924400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:17923400-17924400	Flanking Active TSS	Hela-S3	cervix
36	chr21:17923400-17924800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:17923600-17924000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr21:17923600-17924000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr21:17923600-17924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr21:17923600-17924000	Enhancers	HSMM	muscle
41	chr21:17923600-17924200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:17923600-17924200	Enhancers	Osteobl	bone
43	chr21:17923800-17924000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr21:17923800-17924400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:17923800-17926800	Weak transcription	Right Atrium	heart
46	chr21:17923800-17927800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:17923800-17942000	Weak transcription	Right Ventricle	heart

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