Variant report

Variant	rs72772479
Chromosome Location	chr5:101278005-101278006
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101277790..101278635-chr5:101488732..101489585,4	MCF-7	breast:
2	chr5:101277703..101278961-chr5:101426537..101427100,3	MCF-7	breast:
3	chr5:101277636..101278379-chr5:101489093..101489664,2	MCF-7	breast:
4	chr5:101277581..101278499-chr5:101426192..101427059,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10042737	0.88[ASN][1000 genomes]
rs11960150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12054812	0.94[ASN][1000 genomes]
rs12054889	0.94[ASN][1000 genomes]
rs12055006	0.98[ASN][1000 genomes]
rs4612032	0.98[ASN][1000 genomes]
rs56026747	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56111034	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61235228	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6596221	0.99[ASN][1000 genomes]
rs66873638	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67126660	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67235080	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67315188	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67672242	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67714679	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68179857	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6863725	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863901	0.94[ASN][1000 genomes]
rs6870397	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6874565	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6882799	0.94[ASN][1000 genomes]
rs72772465	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72772484	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72772485	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9687258	0.92[ASN][1000 genomes]
rs9885490	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760962	chr5:100776199-101485581	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1020197	chr5:100994872-101285370	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1020503	chr5:100995507-101283156	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1028227	chr5:100995507-101285370	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882496	chr5:101066107-101507854	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882497	chr5:101090013-101475506	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv995004	chr5:101148890-101423754	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv882500	chr5:101163807-101341123	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv524531	chr5:101178314-101412612	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv427727	chr5:101185774-101365964	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1033788	chr5:101227917-101378215	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3470610	chr5:101231241-101280857	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3470609	chr5:101231282-101280840	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3470611	chr5:101231282-101280840	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3469635	chr5:101277622-101279408	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3469634	chr5:101277914-101279283	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3469636	chr5:101277914-101279283	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101277600-101279000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:101277800-101278200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:101277800-101278600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:101278000-101278200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:101278000-101278400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:101278000-101278600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:101278000-101280000	Enhancers	Primary monocytes fromperipheralblood	blood

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