Variant report

Variant	rs72785243
Chromosome Location	chr10:43847997-43847998
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:43521390..43523770-chr10:43846828..43848793,2	MCF-7	breast:
2	chr10:43847068..43851484-chr10:43869685..43874039,8	MCF-7	breast:
3	chr10:43842333..43853034-chr10:43900806..43908178,21	MCF-7	breast:
4	chr10:43847924..43850753-chr10:43885592..43887337,2	MCF-7	breast:
5	chr10:43846613..43849361-chr10:43890166..43892037,2	MCF-7	breast:
6	chr10:43847056..43849483-chr10:43852032..43853812,3	MCF-7	breast:
7	chr10:43847403..43853479-chr10:43888233..43893881,11	MCF-7	breast:
8	chr10:43847199..43849445-chr10:43952721..43955628,2	MCF-7	breast:
9	chr10:43845449..43848194-chr10:43889287..43891526,2	K562	blood:
10	chr10:43843670..43847999-chr10:43855800..43861023,11	MCF-7	breast:
11	chr10:43845683..43851518-chr10:43853877..43859694,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150201	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000169813	Chromatin interaction

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

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

rs_ID	r²[population]
rs1106215	1.00[ASN][1000 genomes]
rs11238575	1.00[ASN][1000 genomes]
rs17153601	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366781	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856400	1.00[ASN][1000 genomes]
rs1879311	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248807	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253260	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264603	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265955	1.00[ASN][1000 genomes]
rs2819025	1.00[ASN][1000 genomes]
rs2999222	1.00[ASN][1000 genomes]
rs3006393	1.00[ASN][1000 genomes]
rs3006410	1.00[ASN][1000 genomes]
rs3124211	1.00[ASN][1000 genomes]
rs4948727	1.00[ASN][1000 genomes]
rs55765722	1.00[ASN][1000 genomes]
rs56037308	1.00[ASN][1000 genomes]
rs56087058	1.00[ASN][1000 genomes]
rs56234785	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237566	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56252639	1.00[ASN][1000 genomes]
rs56275379	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072967	1.00[ASN][1000 genomes]
rs7073345	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084621	1.00[ASN][1000 genomes]
rs7085670	1.00[ASN][1000 genomes]
rs72785234	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785236	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785237	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785248	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785255	1.00[ASN][1000 genomes]
rs72785256	1.00[ASN][1000 genomes]
rs72785266	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787434	1.00[ASN][1000 genomes]
rs7916718	1.00[ASN][1000 genomes]
rs9422365	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43844000-43848600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr10:43844400-43848400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:43844400-43848400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:43844400-43848400	Weak transcription	Hela-S3	cervix
5	chr10:43844400-43848600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:43844400-43848600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:43844400-43857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:43844600-43848600	Weak transcription	A549	lung
9	chr10:43844600-43849400	Weak transcription	K562	blood
10	chr10:43846000-43848600	Weak transcription	Brain Substantia Nigra	brain
11	chr10:43846400-43852000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:43846600-43848600	Weak transcription	Brain Angular Gyrus	brain
13	chr10:43846600-43848600	Weak transcription	Brain Anterior Caudate	brain
14	chr10:43846600-43848600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:43846600-43848600	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:43846600-43848600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:43846600-43849400	Weak transcription	NHEK	skin
18	chr10:43846600-43849800	Weak transcription	Pancreas	Pancrea
19	chr10:43846600-43851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:43846600-43851400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:43846600-43851600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:43846600-43857200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:43847000-43849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:43847000-43849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:43847000-43851200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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