Variant report

Variant	rs206838
Chromosome Location	chr2:31712268-31712269
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31705373..31707230-chr2:31710852..31712449,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13016636	0.97[ASN][1000 genomes]
rs206804	0.93[ASN][1000 genomes]
rs206805	0.93[ASN][1000 genomes]
rs206834	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206836	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206841	0.97[ASN][1000 genomes]
rs206844	0.97[ASN][1000 genomes]
rs472445	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs533833	0.93[ASN][1000 genomes]
rs541263	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999815	chr2:31654667-31777296	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv2664	chr2:31710417-31733762	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31712000-31712400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:31712000-31712600	Enhancers	NHDF-Ad	bronchial
3	chr2:31712000-31712600	Enhancers	NHLF	lung
4	chr2:31712000-31712800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:31712000-31712800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:31712000-31712800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:31712000-31712800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:31712000-31712800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:31712000-31712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:31712000-31712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:31712000-31712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:31712000-31713000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:31712200-31712600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:31712200-31712600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:31712200-31712600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:31712200-31712600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:31712200-31712600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:31712200-31712600	Enhancers	Fetal Intestine Large	intestine
19	chr2:31712200-31712800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:31712200-31712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:31712200-31712800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:31712200-31712800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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