Variant report

Variant	rs8031423
Chromosome Location	chr15:59658757-59658758
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:57)

rs_ID	r²[population]
rs10851653	0.96[ASN][1000 genomes]
rs11071432	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11071433	0.96[ASN][1000 genomes]
rs11630796	0.86[ASN][1000 genomes]
rs11631146	0.95[ASN][1000 genomes]
rs11631451	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11632346	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11634604	0.85[ASN][1000 genomes]
rs11635849	0.97[ASN][1000 genomes]
rs11637840	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11639217	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11854356	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11854697	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11855765	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11858264	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11858313	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050546	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12441388	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12442217	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593179	0.81[AMR][1000 genomes]
rs12593355	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12899138	0.97[ASN][1000 genomes]
rs12905793	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12911676	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1580426	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16941369	0.97[ASN][1000 genomes]
rs17236585	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17302351	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2170895	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28363891	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28380572	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28572451	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4774327	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775158	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59107240	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61692274	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62012550	0.89[ASN][1000 genomes]
rs6494101	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6494102	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6494105	0.97[ASN][1000 genomes]
rs66595425	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66991143	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67498027	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162228	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7168074	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168263	0.81[AMR][1000 genomes]
rs7173362	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7177984	0.81[AMR][1000 genomes]
rs7178041	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8024396	0.92[ASN][1000 genomes]
rs8024879	0.92[ASN][1000 genomes]
rs8024906	0.92[ASN][1000 genomes]
rs8025242	0.89[ASN][1000 genomes]
rs8025360	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8039327	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8041804	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs965929	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	nsv904275	chr15:59648633-59726610	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
8	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59623200-59662800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:59634800-59662600	Weak transcription	Colonic Mucosa	Colon
3	chr15:59637800-59662000	Weak transcription	Right Ventricle	heart
4	chr15:59642600-59659400	Weak transcription	Ovary	ovary
5	chr15:59643000-59659400	Weak transcription	Fetal Intestine Small	intestine
6	chr15:59643600-59658800	Weak transcription	Fetal Intestine Large	intestine
7	chr15:59644800-59659400	Weak transcription	Right Atrium	heart
8	chr15:59645200-59659200	Weak transcription	Fetal Heart	heart
9	chr15:59645200-59662000	Weak transcription	Psoas Muscle	Psoas
10	chr15:59645400-59659200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:59645400-59659400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:59646600-59662200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:59646800-59662600	Weak transcription	Gastric	stomach
14	chr15:59647000-59662400	Weak transcription	Adipose Nuclei	Adipose
15	chr15:59647800-59659400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:59647800-59659400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:59648600-59663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:59648800-59662200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:59649000-59659200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:59649000-59663400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:59650600-59658800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:59650600-59659400	Weak transcription	Aorta	Aorta
23	chr15:59650600-59659400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:59650600-59663400	Weak transcription	Fetal Stomach	stomach
25	chr15:59652000-59659400	Weak transcription	Pancreas	Pancrea
26	chr15:59653000-59659200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:59653000-59659400	Weak transcription	Brain Angular Gyrus	brain
28	chr15:59653400-59659400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:59653400-59659400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:59653400-59662000	Weak transcription	Placenta	Placenta
31	chr15:59653400-59662200	Weak transcription	Spleen	Spleen
32	chr15:59653400-59662600	Weak transcription	Left Ventricle	heart
33	chr15:59653400-59663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:59653600-59658800	Weak transcription	Brain Anterior Caudate	brain
35	chr15:59653600-59658800	Weak transcription	NH-A	brain
36	chr15:59653600-59658800	Weak transcription	NHLF	lung
37	chr15:59653600-59659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:59653600-59662800	Weak transcription	HSMMtube	muscle
39	chr15:59653800-59659400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:59654800-59659400	Genic enhancers	A549	lung
41	chr15:59656400-59660000	Enhancers	HUVEC	blood vessel
42	chr15:59656400-59660200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:59656600-59659400	Weak transcription	Lung	lung
44	chr15:59656600-59663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:59656800-59662200	Weak transcription	Stomach Mucosa	stomach
46	chr15:59657000-59659400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:59657000-59662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:59657200-59658800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:59657600-59660600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:59657800-59659800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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