Variant report

Variant	rs55914644
Chromosome Location	chr2:10601459-10601460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10601137..10602671-chr2:10605731..10607500,2	K562	blood:
2	chr2:10594316..10596675-chr2:10601080..10603064,2	K562	blood:
3	chr2:10596576..10598747-chr2:10600505..10604062,3	K562	blood:
4	chr2:10599177..10602041-chr2:10606056..10609935,6	MCF-7	breast:
5	chr2:10592357..10594877-chr2:10601388..10603054,2	MCF-7	breast:
6	chr2:10598555..10604407-chr2:10604583..10609501,9	K562	blood:
7	chr2:10600545..10602902-chr2:10625810..10627729,2	MCF-7	breast:
8	chr2:10600944..10603899-chr2:10606778..10608591,2	MCF-7	breast:
9	chr2:10596837..10598747-chr2:10600609..10603052,2	K562	blood:
10	chr2:10601253..10603779-chr2:10706014..10708775,2	K562	blood:
11	chr2:10586438..10588485-chr2:10600643..10603353,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10929670	0.83[EUR][1000 genomes]
rs12692409	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383886	0.96[EUR][1000 genomes]
rs13384008	0.96[EUR][1000 genomes]
rs13407603	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17435697	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34839615	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432097	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7567010	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs950142	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1840643	chr2:10585364-10607465	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv1835263	chr2:10587869-10611211	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10590800-10615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10599400-10607000	Weak transcription	Gastric	stomach
3	chr2:10600200-10601600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:10600200-10602200	Bivalent Enhancer	HepG2	liver
5	chr2:10600400-10601600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:10600600-10602600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:10600800-10601600	Bivalent Enhancer	Placenta	Placenta
8	chr2:10600800-10602200	Enhancers	HMEC	breast
9	chr2:10601000-10603000	Weak transcription	Fetal Thymus	thymus
10	chr2:10601200-10601800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:10601400-10601600	Enhancers	NHEK	skin
12	chr2:10601400-10621400	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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