Variant report

Variant	rs72882752
Chromosome Location	chr2:47590662-47590663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47572145..47573948-chr2:47589350..47592537,3	MCF-7	breast:
2	chr2:47586945..47591052-chr2:47593988..47597569,4	K562	blood:
3	chr2:47587435..47591464-chr2:47593988..47597001,4	K562	blood:
4	chr2:47580625..47583469-chr2:47590041..47591979,2	MCF-7	breast:
5	chr2:47587881..47592394-chr2:47594664..47598225,6	MCF-7	breast:
6	chr2:47588711..47590901-chr2:47594534..47597934,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234690	Chromatin interaction
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17036586	1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17039236	1.00[AMR][1000 genomes]
rs17217849	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17217961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17218648	1.00[AMR][1000 genomes]
rs17224122	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224724	1.00[AMR][1000 genomes]
rs17224738	1.00[AMR][1000 genomes]
rs17224815	1.00[AMR][1000 genomes]
rs1800151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55815447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55905016	1.00[AMR][1000 genomes]
rs56076616	1.00[AMR][1000 genomes]
rs56958162	1.00[AMR][1000 genomes]
rs57972954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58080795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974084	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60121180	1.00[AMR][1000 genomes]
rs60512750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61282650	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61635665	1.00[AMR][1000 genomes]
rs72882725	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884625	1.00[AMR][1000 genomes]
rs72884632	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884676	1.00[AMR][1000 genomes]
rs72886304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886358	1.00[AMR][1000 genomes]
rs72888237	1.00[AMR][1000 genomes]
rs72888238	1.00[AMR][1000 genomes]
rs72888263	1.00[AMR][1000 genomes]
rs73927793	0.82[AFR][1000 genomes]
rs73927801	1.00[AMR][1000 genomes]
rs73927802	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	nsv520660	chr2:47590034-47601106	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47587000-47595600	Weak transcription	Colonic Mucosa	Colon
2	chr2:47588600-47595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:47588600-47595800	Weak transcription	HMEC	breast
4	chr2:47589600-47595000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:47589600-47595200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:47589600-47596200	Weak transcription	Duodenum Mucosa	Duodenum

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