Variant report

Variant	rs72783237
Chromosome Location	chr10:43721347-43721348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43705829..43707653-chr10:43720065..43721565,2	K562	blood:
2	chr10:43720076..43721666-chr10:43723376..43725809,2	K562	blood:
3	chr10:43720964..43723652-chr10:43803043..43805548,2	K562	blood:
4	chr10:43715924..43718494-chr10:43721120..43724521,4	K562	blood:
5	chr10:43721241..43722992-chr10:43727167..43730117,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198915	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10159558	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11238441	0.83[AMR][1000 genomes]
rs11238465	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12258585	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12260994	0.81[ASN][1000 genomes]
rs12262152	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12765436	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12765715	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12765838	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766298	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12775330	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775743	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12779732	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17158616	0.81[AFR][1000 genomes]
rs17363630	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1799939	0.82[AMR][1000 genomes]
rs1800863	0.83[AMR][1000 genomes]
rs1864393	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1879298	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1879299	0.88[AMR][1000 genomes]
rs2075911	0.83[AMR][1000 genomes]
rs28401552	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2900627	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3026776	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3026779	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3026781	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3026782	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34817887	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4987091	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66557659	0.84[AMR][1000 genomes]
rs7074319	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7086299	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7092548	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7096367	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs71505665	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71505667	1.00[ASN][1000 genomes]
rs71505668	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783242	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7893332	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7903283	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7910648	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7910805	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7921281	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7923256	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9804209	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	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
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	esv1831010	chr10:43674916-43759185	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv825351	chr10:43714249-43788481	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3323701	chr10:43718546-43723044	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43698000-43722800	Weak transcription	Gastric	stomach
2	chr10:43699400-43724600	Weak transcription	Right Atrium	heart
3	chr10:43714800-43722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:43717000-43724000	Weak transcription	A549	lung
5	chr10:43717600-43724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:43720400-43721800	Enhancers	Brain Anterior Caudate	brain
7	chr10:43720400-43722200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr10:43720400-43722200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:43720400-43722200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr10:43720600-43721400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr10:43720600-43724400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr10:43720800-43721800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr10:43720800-43721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:43720800-43724000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:43720800-43724200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:43720800-43724600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:43721000-43721600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:43721000-43721600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr10:43721000-43722200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:43721000-43724200	Weak transcription	Pancreas	Pancrea
21	chr10:43721000-43724600	Enhancers	Spleen	Spleen
22	chr10:43721200-43721600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:43721200-43721600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:43721200-43721600	Bivalent Enhancer	Placenta	Placenta
25	chr10:43721200-43722000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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