Variant report

Variant	rs72986482
Chromosome Location	chr2:234614086-234614087
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
2	chr2:234610804..234613588-chr2:234613696..234615763,4	MCF-7	breast:
3	chr2:234614061..234616224-chr2:234620494..234622602,2	MCF-7	breast:
4	chr2:223668895..223671804-chr2:234613604..234615139,2	MCF-7	breast:
5	chr2:234474897..234476429-chr2:234612353..234614313,2	MCF-7	breast:
6	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
7	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
8	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
9	chr2:234591661..234593982-chr2:234613958..234615521,2	MCF-7	breast:
10	chr2:234613252..234614909-chr2:234617932..234620320,3	MCF-7	breast:
11	chr2:234429004..234430713-chr2:234613952..234615612,2	MCF-7	breast:
12	chr2:234613458..234615590-chr2:234762717..234764318,2	MCF-7	breast:
13	chr2:234473635..234475919-chr2:234612965..234615031,3	MCF-7	breast:
14	chr2:234613247..234615751-chr2:234736486..234739479,2	MCF-7	breast:
15	chr2:234470715..234472722-chr2:234612737..234614853,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000240224	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000185038	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11683356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17868322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2760615	chr2:234613030-234640233	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234602800-234614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:234609000-234614400	Weak transcription	Stomach Mucosa	stomach
3	chr2:234609000-234614800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234609200-234614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:234611000-234616000	Enhancers	Liver	Liver
6	chr2:234611400-234616600	Weak transcription	HUVEC	blood vessel
7	chr2:234611600-234614600	Weak transcription	Hela-S3	cervix
8	chr2:234613800-234614600	Weak transcription	Pancreas	Pancrea
9	chr2:234613800-234615200	Genic enhancers	A549	lung
10	chr2:234614000-234614400	Enhancers	NHEK	skin
11	chr2:234614000-234617400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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