Variant report

Variant	rs229100
Chromosome Location	chr21:28223092-28223093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:28221746..28223182-chr21:30116685..30117983,6	MCF-7	breast:
2	chr21:28221458..28223181-chr21:30117045..30118660,24	K562	blood:
3	chr21:28221528..28223154-chr21:29072525..29074611,26	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1788306	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229101	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28219400-28223400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:28219400-28224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:28219400-28229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:28219600-28223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:28219600-28223400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28219600-28223400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:28219600-28223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:28219600-28223400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:28219800-28223600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:28220200-28223400	Weak transcription	Brain Angular Gyrus	brain
11	chr21:28220600-28223200	Weak transcription	Brain Anterior Caudate	brain
12	chr21:28221400-28223200	Enhancers	Fetal Lung	lung
13	chr21:28221800-28223200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:28222000-28223200	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:28222000-28224600	Enhancers	Liver	Liver
16	chr21:28222000-28225800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr21:28222200-28224000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr21:28222200-28225600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr21:28222200-28226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:28222400-28223400	Weak transcription	HSMM	muscle
21	chr21:28222600-28223200	Enhancers	Fetal Kidney	kidney
22	chr21:28222800-28223200	Enhancers	Fetal Stomach	stomach
23	chr21:28222800-28223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:28222800-28223600	Enhancers	Brain Cingulate Gyrus	brain
25	chr21:28222800-28224600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr21:28223000-28223600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr21:28223000-28223600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:28223000-28224000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:28223000-28224000	Enhancers	Brain Substantia Nigra	brain
30	chr21:28223000-28225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr21:28223000-28225400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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