Variant report

Variant	rs72831609
Chromosome Location	chr2:112899915-112899916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112893664..112896750-chr2:112899027..112902371,4	MCF-7	breast:
2	chr2:112898707..112900411-chr2:112905803..112908114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144152	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10166396	1.00[ASN][1000 genomes]
rs10174680	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182451	0.93[EUR][1000 genomes]
rs10185224	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10190845	1.00[ASN][1000 genomes]
rs10201778	0.93[EUR][1000 genomes]
rs10202871	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328678	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1317633	1.00[ASN][1000 genomes]
rs13422534	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17041977	1.00[ASN][1000 genomes]
rs2312695	1.00[ASN][1000 genomes]
rs35586251	1.00[ASN][1000 genomes]
rs4849052	1.00[ASN][1000 genomes]
rs55958600	1.00[ASN][1000 genomes]
rs56090586	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166956	1.00[ASN][1000 genomes]
rs56371451	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66470738	1.00[ASN][1000 genomes]
rs72829697	1.00[ASN][1000 genomes]
rs72831604	1.00[ASN][1000 genomes]
rs72831605	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831611	1.00[ASN][1000 genomes]
rs72831613	1.00[ASN][1000 genomes]
rs72831616	1.00[ASN][1000 genomes]
rs72831617	1.00[ASN][1000 genomes]
rs72831618	1.00[ASN][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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112896800-112907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:112898000-112907000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:112898200-112900800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:112898200-112906200	Weak transcription	Right Atrium	heart
6	chr2:112898200-112915000	Weak transcription	Pancreas	Pancrea
7	chr2:112898400-112900000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:112898400-112905000	Weak transcription	Osteobl	bone
9	chr2:112898400-112907400	Weak transcription	NHLF	lung
10	chr2:112898800-112902400	Weak transcription	NHDF-Ad	bronchial
11	chr2:112898800-112906200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:112899000-112906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:112899000-112913000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:112899200-112905200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:112899200-112906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:112899200-112914000	Weak transcription	HepG2	liver
17	chr2:112899400-112900200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:112899400-112906800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:112899600-112906200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:112899800-112900400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:112899800-112900600	Strong transcription	Fetal Lung	lung

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