Variant report

Variant	rs72969818
Chromosome Location	chr2:101244516-101244517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101244463..101246653-chr2:101271158..101274017,2	MCF-7	breast:
2	chr2:101241202..101243203-chr2:101243229..101245188,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10197594	0.83[EUR][1000 genomes]
rs10496349	1.00[ASN][1000 genomes]
rs11888428	0.83[EUR][1000 genomes]
rs11898633	1.00[EUR][1000 genomes]
rs11901892	0.83[EUR][1000 genomes]
rs13392425	0.83[EUR][1000 genomes]
rs17024550	1.00[ASN][1000 genomes]
rs17024553	1.00[ASN][1000 genomes]
rs17024557	1.00[ASN][1000 genomes]
rs17024599	0.83[EUR][1000 genomes]
rs34127796	0.83[EUR][1000 genomes]
rs4638814	0.83[EUR][1000 genomes]
rs57615417	0.83[EUR][1000 genomes]
rs58227608	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58488423	0.84[ASN][1000 genomes]
rs60974130	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61211218	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736749	0.83[EUR][1000 genomes]
rs6744622	0.83[EUR][1000 genomes]
rs72969815	1.00[ASN][1000 genomes]
rs72971703	0.84[ASN][1000 genomes]
rs72971714	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72971719	0.83[EUR][1000 genomes]
rs72977500	0.83[EUR][1000 genomes]
rs72979410	0.83[EUR][1000 genomes]
rs72979416	0.83[EUR][1000 genomes]
rs72982877	0.83[EUR][1000 genomes]
rs73967606	1.00[EUR][1000 genomes]
rs73967607	1.00[EUR][1000 genomes]
rs73967611	1.00[EUR][1000 genomes]
rs73967613	1.00[EUR][1000 genomes]
rs73967614	1.00[EUR][1000 genomes]
rs73967615	1.00[EUR][1000 genomes]
rs73967635	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv834314	chr2:101210940-101410477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101241400-101244600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:101243000-101244600	Enhancers	Fetal Brain Male	brain
3	chr2:101243200-101249400	Enhancers	Fetal Thymus	thymus
4	chr2:101243400-101247800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:101243800-101244800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:101244000-101244600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:101244200-101244600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:101244200-101244600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:101244200-101245000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:101244400-101244600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:101244400-101244600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:101244400-101244800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:101244400-101245000	Enhancers	Primary T cells from cord blood	blood

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