Variant report

Variant	rs72783257
Chromosome Location	chr10:43761629-43761630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43761240..43761910-chr10:43957026..43957545,2	MCF-7	breast:
2	chr10:43759900..43762026-chr10:43901535..43903337,2	MCF-7	breast:
3	chr10:43633206..43635379-chr10:43761035..43762686,2	MCF-7	breast:
4	chr10:43633619..43635410-chr10:43761017..43763266,2	MCF-7	breast:
5	chr10:43748329..43751092-chr10:43758387..43762104,3	MCF-7	breast:
6	chr10:43760886..43761922-chr10:43843561..43844509,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273008	Chromatin interaction
ENSG00000169826	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11816932	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818330	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11818744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764513	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766880	0.81[ASN][1000 genomes]
rs12783340	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158702	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36092967	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4987092	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61845701	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61845702	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66697536	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783255	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv895086	chr10:43731521-43767816	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	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
16	esv1846074	chr10:43744741-43761629	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3325362	chr10:43761321-43763744	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43759600-43762000	Active TSS	Brain Anterior Caudate	brain
2	chr10:43759800-43762000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr10:43760000-43761800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:43760200-43762000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr10:43760200-43762000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr10:43760600-43761800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr10:43760600-43761800	Bivalent Enhancer	Esophagus	oesophagus
8	chr10:43760800-43761800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:43761000-43761800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:43761000-43762000	Bivalent Enhancer	Fetal Brain Male	brain
11	chr10:43761000-43762800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr10:43761200-43761800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr10:43761200-43762000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr10:43761200-43762800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr10:43761200-43762800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr10:43761400-43761800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr10:43761400-43761800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr10:43761400-43761800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:43761400-43761800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:43761400-43761800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr10:43761400-43761800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:43761400-43761800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:43761400-43761800	Bivalent Enhancer	Ovary	ovary
24	chr10:43761400-43761800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr10:43761400-43761800	Flanking Active TSS	A549	lung
26	chr10:43761400-43762000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
31	chr10:43761400-43762000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:43761400-43762000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:43761400-43762000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr10:43761400-43762000	Enhancers	Fetal Heart	heart
37	chr10:43761400-43762000	Bivalent Enhancer	Placenta	Placenta
38	chr10:43761400-43762000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr10:43761400-43762600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr10:43761400-43762800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr10:43761400-43762800	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr10:43761400-43763400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr10:43761600-43761800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:43761600-43761800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:43761600-43761800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:43761600-43761800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr10:43761600-43761800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:43761600-43761800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr10:43761600-43761800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:43761600-43761800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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