Variant report

Variant	rs67498027
Chromosome Location	chr15:59631753-59631754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10851653	0.84[ASN][1000 genomes]
rs11071430	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11071432	0.85[ASN][1000 genomes]
rs11071433	0.84[ASN][1000 genomes]
rs11630796	0.87[ASN][1000 genomes]
rs11631146	0.83[ASN][1000 genomes]
rs11631451	0.85[ASN][1000 genomes]
rs11632346	0.90[ASN][1000 genomes]
rs11635849	0.85[ASN][1000 genomes]
rs11637840	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639217	0.88[ASN][1000 genomes]
rs11854356	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11854697	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11855765	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11858264	0.95[ASN][1000 genomes]
rs11858313	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12050546	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441388	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12442217	0.91[ASN][1000 genomes]
rs12593355	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12595769	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12899138	0.85[ASN][1000 genomes]
rs12905793	0.97[ASN][1000 genomes]
rs12911676	0.93[ASN][1000 genomes]
rs1580426	0.97[ASN][1000 genomes]
rs16941369	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17236578	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17236585	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17302351	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2170895	0.98[ASN][1000 genomes]
rs28363891	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28380572	0.97[ASN][1000 genomes]
rs28572451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774327	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4775158	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59107240	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61692274	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6494101	0.89[ASN][1000 genomes]
rs6494102	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6494105	0.85[ASN][1000 genomes]
rs66595425	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66991143	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67017396	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67552459	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7162228	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7168074	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171696	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7173362	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7178041	0.84[ASN][1000 genomes]
rs8024396	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8024879	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8024906	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8025242	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8025360	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8031423	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8039327	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041804	0.98[ASN][1000 genomes]
rs965929	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1794268	chr15:59614874-59637355	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904274	chr15:59623576-59689378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59622600-59631800	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:59623200-59662800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:59623400-59641200	Weak transcription	Aorta	Aorta
4	chr15:59623400-59643800	Weak transcription	Lung	lung
5	chr15:59623600-59636400	Weak transcription	Psoas Muscle	Psoas
6	chr15:59624400-59637800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:59624600-59650000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:59625000-59636600	Weak transcription	Fetal Intestine Small	intestine
9	chr15:59626000-59632600	Weak transcription	NHLF	lung
10	chr15:59626400-59641400	Weak transcription	HUVEC	blood vessel
11	chr15:59626400-59642400	Weak transcription	Pancreas	Pancrea
12	chr15:59628000-59637800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:59628200-59631800	Weak transcription	Brain Angular Gyrus	brain
14	chr15:59628400-59637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:59628600-59639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:59630000-59632600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:59630400-59632800	Enhancers	NHDF-Ad	bronchial
18	chr15:59630600-59632600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:59630600-59632600	Enhancers	Osteobl	bone
20	chr15:59630600-59632800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:59630600-59632800	Enhancers	HepG2	liver
22	chr15:59630800-59632800	Enhancers	HMEC	breast
23	chr15:59631000-59631800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:59631000-59632800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:59631200-59632000	Enhancers	Brain Hippocampus Middle	brain
26	chr15:59631200-59632200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:59631200-59632600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:59631200-59632600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:59631400-59631800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr15:59631400-59631800	Enhancers	Right Ventricle	heart
31	chr15:59631400-59631800	Enhancers	HSMM	muscle
32	chr15:59631400-59632000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:59631400-59632000	Enhancers	Brain Anterior Caudate	brain
34	chr15:59631400-59632000	Enhancers	Brain Cingulate Gyrus	brain
35	chr15:59631400-59632000	Enhancers	Left Ventricle	heart
36	chr15:59631400-59632000	Enhancers	HSMMtube	muscle
37	chr15:59631400-59632200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:59631400-59632400	Enhancers	Liver	Liver
39	chr15:59631400-59632600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr15:59631400-59632600	Genic enhancers	Hela-S3	cervix
41	chr15:59631400-59632800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:59631600-59631800	Enhancers	Fetal Heart	heart
43	chr15:59631600-59631800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:59631600-59631800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr15:59631600-59631800	Genic enhancers	GM12878-XiMat	blood
46	chr15:59631600-59631800	Enhancers	NHEK	skin
47	chr15:59631600-59632000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:59631600-59632000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:59631600-59632000	Enhancers	Brain Substantia Nigra	brain
50	chr15:59631600-59632000	Flanking Active TSS	A549	lung

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