Variant report

Variant	rs72811074
Chromosome Location	chr2:99455474-99455475
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99341666..99344183-chr2:99455107..99457899,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10153924	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11123753	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12233010	1.00[AFR][1000 genomes]
rs12233187	1.00[AFR][1000 genomes]
rs12233197	1.00[AFR][1000 genomes]
rs1399512	1.00[ASN][1000 genomes]
rs1517679	1.00[ASN][1000 genomes]
rs1517680	1.00[ASN][1000 genomes]
rs1574516	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022034	0.82[EUR][1000 genomes]
rs4850884	1.00[ASN][1000 genomes]
rs4850886	1.00[ASN][1000 genomes]
rs4850887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851149	1.00[ASN][1000 genomes]
rs4851152	1.00[ASN][1000 genomes]
rs4851155	1.00[ASN][1000 genomes]
rs4851156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4851159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66484268	0.81[EUR][1000 genomes]
rs67008211	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67983743	0.81[EUR][1000 genomes]
rs72811067	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811092	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813009	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813012	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813013	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813016	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813021	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:99450000-99468400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:99450600-99456200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:99450800-99462800	Weak transcription	Gastric	stomach
6	chr2:99451000-99456400	Weak transcription	Lung	lung
7	chr2:99453200-99457000	Weak transcription	Esophagus	oesophagus
8	chr2:99453200-99460600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:99453200-99473200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:99454000-99456400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:99454000-99456400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:99454200-99459000	Weak transcription	A549	lung
13	chr2:99455200-99456200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:99455200-99456200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:99455200-99456200	Enhancers	HMEC	breast

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