Variant report

Variant	rs60357795
Chromosome Location	chr10:44878792-44878793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1065297	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793537	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900028	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900030	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900031	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239016	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239019	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239020	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11239021	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239032	0.94[ASN][1000 genomes]
rs12258838	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17540465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17878782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881412	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17887234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1804429	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1804430	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889401	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889402	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105397	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2522	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760669	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839696	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948878	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv550699	chr10:44868257-44882203	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv895089	chr10:44874867-44880838	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv895090	chr10:44874867-44884959	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv895091	chr10:44875040-44888130	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv895092	chr10:44875166-44884959	Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv895093	chr10:44876461-44884959	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv895094	chr10:44876499-44884959	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv895095	chr10:44876586-44884959	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv895096	chr10:44876586-44886206	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv895097	chr10:44876586-44888130	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv895098	chr10:44877501-44881202	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv550700	chr10:44878064-44882203	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv895099	chr10:44878114-44884959	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44860000-44879000	Weak transcription	Gastric	stomach
2	chr10:44874800-44879200	Weak transcription	Aorta	Aorta
3	chr10:44877400-44879200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:44877400-44880400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr10:44877400-44880400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr10:44877600-44878800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:44877600-44878800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:44877600-44879200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:44877600-44879200	Active TSS	Colon Smooth Muscle	Colon
10	chr10:44877600-44879200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr10:44877600-44879600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr10:44877600-44880400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr10:44877600-44880800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr10:44877600-44881000	Bivalent/Poised TSS	Fetal Thymus	thymus
15	chr10:44877600-44881200	Active TSS	Rectal Smooth Muscle	rectum
16	chr10:44877600-44881200	Active TSS	Right Atrium	heart
17	chr10:44877800-44879000	Flanking Active TSS	Psoas Muscle	Psoas
18	chr10:44877800-44879200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:44877800-44879200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr10:44877800-44879200	Active TSS	Brain Cingulate Gyrus	brain
21	chr10:44877800-44879200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr10:44877800-44879400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr10:44877800-44879800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:44877800-44880800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr10:44877800-44881000	Active TSS	NHDF-Ad	bronchial
26	chr10:44877800-44881200	Active TSS	Left Ventricle	heart
27	chr10:44877800-44881400	Active TSS	Fetal Kidney	kidney
28	chr10:44878000-44878800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr10:44878000-44879000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr10:44878000-44879000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr10:44878000-44879000	Active TSS	NHLF	lung
32	chr10:44878000-44879200	Active TSS	Colonic Mucosa	Colon
33	chr10:44878000-44879200	Active TSS	NH-A	brain
34	chr10:44878000-44879800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:44878000-44880200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:44878200-44878800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:44878200-44879000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr10:44878200-44879200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:44878200-44879200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:44878200-44879200	Active TSS	Brain Hippocampus Middle	brain
41	chr10:44878200-44879200	Bivalent Enhancer	Fetal Brain Male	brain
42	chr10:44878200-44879600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:44878200-44879600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr10:44878400-44878800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr10:44878400-44878800	Flanking Active TSS	Ovary	ovary
46	chr10:44878400-44878800	Flanking Active TSS	Right Ventricle	heart
47	chr10:44878400-44879000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:44878400-44879000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr10:44878400-44879000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr10:44878400-44879200	Active TSS	Osteobl	bone

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