Variant report

Variant	rs8017648
Chromosome Location	chr14:39487089-39487090
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1028591	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1040836	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882909	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12883114	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12883946	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12887605	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12891260	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12891438	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12895569	0.86[EUR][1000 genomes]
rs12896384	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12896963	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12897263	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12897593	0.87[ASN][1000 genomes]
rs17607605	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17616347	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17670531	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17676972	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1884383	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1884386	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1950508	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1960796	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2144526	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2144527	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273315	0.85[ASN][1000 genomes]
rs28364834	0.84[ASN][1000 genomes]
rs34292075	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34328534	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34870044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34896803	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34984050	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35395604	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35412542	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35534904	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35729735	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35873738	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35976812	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4555056	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55902358	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55993688	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57550673	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59881143	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61338087	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6571887	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67190795	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7140282	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71407778	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7143056	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7143370	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7144730	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7145712	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7151407	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7152392	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7154223	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs743222	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8007028	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8007240	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8020013	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8020321	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9743466	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9743749	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:39465600-39498200	Weak transcription	NH-A	brain
4	chr14:39469200-39497400	Weak transcription	HSMM	muscle
5	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:39479000-39493000	Weak transcription	A549	lung
7	chr14:39479600-39498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:39479800-39492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:39480200-39499000	Weak transcription	NHDF-Ad	bronchial
10	chr14:39481200-39492600	Weak transcription	Fetal Intestine Small	intestine
11	chr14:39482200-39495000	Weak transcription	HUVEC	blood vessel
12	chr14:39482800-39499200	Weak transcription	Right Ventricle	heart
13	chr14:39483800-39492600	Weak transcription	Osteobl	bone
14	chr14:39485200-39498600	Weak transcription	Aorta	Aorta
15	chr14:39485800-39487200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:39485800-39487200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:39486000-39487200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr14:39486000-39487200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:39486000-39487200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:39486000-39498600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:39486200-39487200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:39486200-39487200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:39486200-39492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:39486400-39495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:39486400-39497400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:39486400-39498600	Weak transcription	HSMMtube	muscle
27	chr14:39486600-39487200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:39486600-39498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:39486800-39487200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:39486800-39495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:39486800-39495200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:39486800-39498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:39487000-39487200	Enhancers	HepG2	liver
34	chr14:39487000-39498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:39487000-39499400	Weak transcription	H1 Cell Line	embryonic stem cell

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