Variant report

Variant	rs12253972
Chromosome Location	chr10:93762218-93762219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93759429..93762295-chr10:93766132..93769049,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10430650	0.87[ASN][1000 genomes]
rs10509640	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786024	0.89[ASN][1000 genomes]
rs10786025	0.91[ASN][1000 genomes]
rs10786026	0.91[ASN][1000 genomes]
rs10786027	0.84[ASN][1000 genomes]
rs11186744	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12251446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12254369	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259055	0.91[ASN][1000 genomes]
rs12262352	0.91[ASN][1000 genomes]
rs12263532	0.87[ASN][1000 genomes]
rs12263639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266974	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12267763	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765070	0.90[ASN][1000 genomes]
rs1581240	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17107211	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2048901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252200	0.91[ASN][1000 genomes]
rs2676806	0.88[ASN][1000 genomes]
rs2676821	0.91[ASN][1000 genomes]
rs2676823	0.91[ASN][1000 genomes]
rs2676824	0.89[ASN][1000 genomes]
rs2792019	0.91[ASN][1000 genomes]
rs4288679	0.87[ASN][1000 genomes]
rs4509678	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642987	0.90[ASN][1000 genomes]
rs4933703	0.91[ASN][1000 genomes]
rs7070076	0.90[ASN][1000 genomes]
rs7071659	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076665	0.83[ASN][1000 genomes]
rs7077506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7901434	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904900	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7909870	0.91[ASN][1000 genomes]
rs7911552	0.91[ASN][1000 genomes]
rs7912721	0.91[ASN][1000 genomes]
rs7915659	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924014	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs833368	0.91[ASN][1000 genomes]
rs833383	0.88[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	nsv1051226	chr10:93711296-93915586	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540745	chr10:93711296-93915586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1042818	chr10:93715483-93855032	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Flanking 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895893	chr10:93747260-93875264	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93704800-93807400	Weak transcription	Gastric	stomach
2	chr10:93709000-93771800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:93714600-93768000	Weak transcription	Right Ventricle	heart
4	chr10:93718400-93774000	Weak transcription	Spleen	Spleen
5	chr10:93723800-93786600	Weak transcription	Colonic Mucosa	Colon
6	chr10:93729800-93765600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:93734800-93763400	Strong transcription	Dnd41	blood
8	chr10:93736200-93784400	Weak transcription	Pancreas	Pancrea
9	chr10:93740200-93766200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:93740400-93764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:93740400-93770800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:93743000-93795000	Weak transcription	Stomach Mucosa	stomach
13	chr10:93743400-93770200	Weak transcription	Brain Angular Gyrus	brain
14	chr10:93743400-93770600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:93743600-93772800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:93743600-93772800	Weak transcription	Lung	lung
17	chr10:93743600-93786400	Weak transcription	Aorta	Aorta
18	chr10:93745000-93768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr10:93745000-93797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:93745600-93778800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:93748600-93773400	Weak transcription	Psoas Muscle	Psoas
22	chr10:93749400-93768000	Weak transcription	HepG2	liver
23	chr10:93749400-93768800	Weak transcription	NHLF	lung
24	chr10:93749400-93770000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:93749600-93792200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:93750000-93768200	Weak transcription	Brain Substantia Nigra	brain
27	chr10:93750000-93768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:93751200-93762400	Strong transcription	Osteobl	bone
29	chr10:93751400-93765000	Strong transcription	Fetal Thymus	thymus
30	chr10:93751400-93766200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:93751600-93762400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:93751600-93762600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:93751800-93762400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:93751800-93762400	Strong transcription	Adipose Nuclei	Adipose
35	chr10:93751800-93770400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:93752000-93777400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:93753400-93767400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:93753600-93782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:93754200-93762600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:93754600-93783800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr10:93754800-93768800	Weak transcription	Brain Anterior Caudate	brain
42	chr10:93754800-93770000	Weak transcription	Brain Hippocampus Middle	brain
43	chr10:93754800-93773800	Weak transcription	Colon Smooth Muscle	Colon
44	chr10:93754800-93782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr10:93755800-93784200	Weak transcription	Esophagus	oesophagus
46	chr10:93756000-93772800	Weak transcription	HMEC	breast
47	chr10:93756400-93765600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:93756400-93770000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:93757200-93765800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:93757600-93768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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