Variant report

Variant	rs71316686
Chromosome Location	chr21:40992695-40992696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40982609..40986859-chr21:40989196..40993201,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184809	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13051335	1.00[EUR][1000 genomes]
rs71316684	1.00[EUR][1000 genomes]
rs71316685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73213473	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40985600-41002400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40985600-41008400	Weak transcription	Pancreas	Pancrea
3	chr21:40986000-41004200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:40987000-40999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:40987600-40996200	Weak transcription	Brain Anterior Caudate	brain
6	chr21:40988800-40996800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:40989400-40997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:40989400-40999000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:40989600-40992800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:40989600-40995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:40989600-41004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:40990000-40996800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:40990200-41008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:40990400-40998800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:40991200-40993200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr21:40991400-41002400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:40992400-40992800	Enhancers	Stomach Mucosa	stomach
18	chr21:40992400-40993000	Enhancers	Fetal Heart	heart
19	chr21:40992400-40993200	Enhancers	Duodenum Mucosa	Duodenum
20	chr21:40992600-40994200	Enhancers	Pancreatic Islets	Pancreatic Islet

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