Variant report

Variant	rs12243359
Chromosome Location	chr10:49789303-49789304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49776352..49778788-chr10:49787790..49790511,2	K562	blood:
2	chr10:49781506..49783468-chr10:49787135..49789633,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1075808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1075809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776626	0.97[ASN][1000 genomes]
rs10857604	0.97[ASN][1000 genomes]
rs10857605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107998	0.97[ASN][1000 genomes]
rs11101388	0.97[ASN][1000 genomes]
rs11101389	0.97[ASN][1000 genomes]
rs12243298	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345106	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7071547	0.97[ASN][1000 genomes]
rs7085667	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7098855	0.97[ASN][1000 genomes]
rs877642	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs877643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv550815	chr10:49774633-49794481	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv550816	chr10:49782417-49794481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49782800-49790200	Weak transcription	Aorta	Aorta
2	chr10:49786200-49792800	Enhancers	Brain Substantia Nigra	brain
3	chr10:49787000-49791800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:49787600-49789400	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr10:49787600-49790600	Enhancers	Brain Hippocampus Middle	brain
6	chr10:49787800-49791200	Weak transcription	Spleen	Spleen
7	chr10:49787800-49791400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:49787800-49792400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:49787800-49793200	Weak transcription	Gastric	stomach
10	chr10:49787800-49796800	Weak transcription	Right Atrium	heart
11	chr10:49788000-49789400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:49788000-49792600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:49788000-49792800	Strong transcription	HUVEC	blood vessel
14	chr10:49788000-49796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:49788200-49789800	Weak transcription	HSMMtube	muscle
16	chr10:49788200-49792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:49788200-49792800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:49788200-49795600	Strong transcription	Osteobl	bone
19	chr10:49788200-49795800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:49788400-49790000	Weak transcription	Adipose Nuclei	Adipose
21	chr10:49788600-49790600	Weak transcription	Ovary	ovary
22	chr10:49788600-49790800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:49788600-49792600	Strong transcription	NHDF-Ad	bronchial
24	chr10:49788800-49790200	Weak transcription	NHLF	lung
25	chr10:49788800-49791000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:49788800-49791200	Weak transcription	Brain Anterior Caudate	brain
27	chr10:49788800-49791400	Weak transcription	Brain Angular Gyrus	brain
28	chr10:49788800-49791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:49788800-49793400	Strong transcription	HSMM	muscle
30	chr10:49788800-49795000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr10:49788800-49797200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:49789000-49790200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49789000-49790600	Enhancers	Primary B cells from peripheral blood	blood
34	chr10:49789000-49791000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:49789000-49791200	Strong transcription	HMEC	breast
36	chr10:49789000-49791400	Weak transcription	Colon Smooth Muscle	Colon
37	chr10:49789000-49793000	Strong transcription	NH-A	brain
38	chr10:49789200-49790400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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