Variant report

Variant	rs12241247
Chromosome Location	chr10:43319349-43319350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1008751	0.81[ASN][1000 genomes]
rs10466247	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10751394	0.83[EUR][1000 genomes]
rs10793636	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793638	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900268	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10900271	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10900273	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900276	0.96[ASN][1000 genomes]
rs10900278	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10900279	0.92[ASN][1000 genomes]
rs10900280	0.92[ASN][1000 genomes]
rs11239781	0.84[ASN][1000 genomes]
rs11239782	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11239784	0.89[ASN][1000 genomes]
rs11239785	0.91[ASN][1000 genomes]
rs11239787	0.98[ASN][1000 genomes]
rs12240444	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12570118	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12570505	0.82[AFR][1000 genomes]
rs12770094	0.84[ASN][1000 genomes]
rs1539293	0.83[ASN][1000 genomes]
rs1539294	0.84[ASN][1000 genomes]
rs2142985	0.82[ASN][1000 genomes]
rs2419111	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2419112	0.82[ASN][1000 genomes]
rs34081555	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34109078	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34867211	0.92[ASN][1000 genomes]
rs35580408	0.92[ASN][1000 genomes]
rs3758514	0.82[ASN][1000 genomes]
rs3758516	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3982211	0.93[ASN][1000 genomes]
rs4379783	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4949033	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4949035	0.85[ASN][1000 genomes]
rs6593491	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6593492	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6593494	0.82[ASN][1000 genomes]
rs6593495	0.84[ASN][1000 genomes]
rs6593496	0.84[ASN][1000 genomes]
rs6593498	0.93[ASN][1000 genomes]
rs6593499	0.93[ASN][1000 genomes]
rs7069774	0.88[ASN][1000 genomes]
rs7074877	0.82[ASN][1000 genomes]
rs7080924	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7086238	0.84[ASN][1000 genomes]
rs7089449	0.82[ASN][1000 genomes]
rs7091406	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7133	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7894010	0.94[ASN][1000 genomes]
rs7895230	0.89[ASN][1000 genomes]
rs7896943	0.84[ASN][1000 genomes]
rs7904312	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7909445	0.93[ASN][1000 genomes]
rs7922246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7922559	0.86[ASN][1000 genomes]
rs7923351	0.91[ASN][1000 genomes]
rs7923890	0.87[ASN][1000 genomes]
rs9326544	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	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
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	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
14	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43324000	Strong transcription	Liver	Liver
2	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:43294600-43322800	Weak transcription	Stomach Mucosa	stomach
5	chr10:43301600-43323000	Weak transcription	HMEC	breast
6	chr10:43301800-43325800	Weak transcription	NHLF	lung
7	chr10:43303200-43322200	Weak transcription	Psoas Muscle	Psoas
8	chr10:43303600-43325800	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
10	chr10:43304600-43323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:43306400-43320000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:43308200-43328200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr10:43309800-43319800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:43309800-43330000	Weak transcription	Small Intestine	intestine
15	chr10:43310200-43321800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:43310200-43324000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:43310400-43319400	Strong transcription	Fetal Stomach	stomach
18	chr10:43310400-43327400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr10:43311000-43320000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:43311200-43322000	Strong transcription	Adipose Nuclei	Adipose
21	chr10:43311200-43324000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr10:43311200-43329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:43311400-43319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:43311400-43323800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:43311400-43329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:43311600-43320800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:43311600-43322600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:43311600-43323800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr10:43311600-43324000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:43311600-43328200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:43311800-43320000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:43311800-43320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:43311800-43320400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:43311800-43323000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:43311800-43324400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr10:43312000-43323600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:43312000-43328400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:43312400-43320400	Strong transcription	Fetal Muscle Leg	muscle
39	chr10:43312400-43320400	Strong transcription	Left Ventricle	heart
40	chr10:43312800-43321400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:43313400-43321800	Weak transcription	NHEK	skin
42	chr10:43313400-43325200	Weak transcription	HUVEC	blood vessel
43	chr10:43313400-43325600	Weak transcription	Hela-S3	cervix
44	chr10:43313400-43325800	Weak transcription	Fetal Brain Male	brain
45	chr10:43313800-43322800	Weak transcription	Colonic Mucosa	Colon
46	chr10:43314400-43319600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr10:43314400-43320200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:43314400-43321400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr10:43314400-43322000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:43314400-43325400	Weak transcription	Brain Inferior Temporal Lobe	brain

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