Variant report

Variant	rs59449051
Chromosome Location	chr15:39937769-39937770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39936644..39939290-chr15:39941408..39943879,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10520137	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10520142	0.91[ASN][1000 genomes]
rs11070220	0.81[AMR][1000 genomes]
rs11070221	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070222	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070223	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070224	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070225	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070226	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070227	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070228	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11630406	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11632117	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11632879	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11635103	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11636823	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11638041	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11638558	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852591	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11852649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11855487	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11856971	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11857819	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12899323	0.94[EUR][1000 genomes]
rs12901142	0.92[EUR][1000 genomes]
rs12903514	0.93[EUR][1000 genomes]
rs12908846	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12911549	0.95[EUR][1000 genomes]
rs16969386	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16969395	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16969410	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16969426	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969429	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969451	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969459	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969475	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16969478	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1876852	0.89[ASN][1000 genomes]
rs1876853	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228261	0.81[AMR][1000 genomes]
rs2411299	0.95[EUR][1000 genomes]
rs2411308	0.91[EUR][1000 genomes]
rs2411309	0.93[EUR][1000 genomes]
rs2411311	0.95[EUR][1000 genomes]
rs2411313	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2411314	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2411315	0.91[ASN][1000 genomes]
rs2412412	0.87[ASN][1000 genomes]
rs2412413	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412414	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412415	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412416	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412417	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412418	0.89[ASN][1000 genomes]
rs2412419	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412420	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412421	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2631700	0.86[EUR][1000 genomes]
rs28437905	0.93[EUR][1000 genomes]
rs2898685	0.94[EUR][1000 genomes]
rs2898686	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898688	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2898962	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4319740	0.89[ASN][1000 genomes]
rs4349120	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4479205	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4480779	0.93[EUR][1000 genomes]
rs4526992	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4547308	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4583211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606692	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4628934	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56938133	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60164392	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60195210	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61130460	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61439563	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61568256	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6492909	0.93[EUR][1000 genomes]
rs66781090	0.87[ASN][1000 genomes]
rs67239630	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7162070	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7162781	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167100	0.93[EUR][1000 genomes]
rs7167184	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7169478	0.90[EUR][1000 genomes]
rs7169574	0.90[EUR][1000 genomes]
rs7170335	0.92[ASN][1000 genomes]
rs7176721	0.93[ASN][1000 genomes]
rs7177324	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7179608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180675	0.93[ASN][1000 genomes]
rs72725079	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72725080	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72725084	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72725093	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72725101	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8026916	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8029602	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8032035	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8032289	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033902	0.93[EUR][1000 genomes]
rs8034885	0.89[EUR][1000 genomes]
rs8036226	0.93[EUR][1000 genomes]
rs8042068	0.95[EUR][1000 genomes]
rs884584	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9302102	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9672572	0.86[EUR][1000 genomes]
rs9806365	0.92[ASN][1000 genomes]
rs9806647	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs999393	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39916400-39937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:39923800-39939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:39933800-39937800	Enhancers	HSMM	muscle
4	chr15:39934200-39938000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:39934800-39937800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr15:39934800-39937800	Enhancers	NHEK	skin
7	chr15:39934800-39938200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:39935200-39938600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr15:39936000-39938000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:39936400-39938000	Enhancers	Fetal Muscle Leg	muscle
11	chr15:39936400-39938000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr15:39936400-39938200	Enhancers	Right Ventricle	heart
13	chr15:39936400-39938400	Enhancers	Left Ventricle	heart
14	chr15:39936800-39937800	Enhancers	Fetal Heart	heart
15	chr15:39937000-39941200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:39937200-39937800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:39937200-39938000	Enhancers	HSMMtube	muscle
18	chr15:39937400-39937800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr15:39937400-39938000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:39937400-39938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:39937400-39938200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:39937400-39938200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:39937400-39938800	Flanking Active TSS	HepG2	liver
24	chr15:39937600-39937800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:39937600-39937800	Enhancers	Psoas Muscle	Psoas
26	chr15:39937600-39937800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:39937600-39937800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr15:39937600-39938000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:39937600-39938000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr15:39937600-39938000	Enhancers	Right Atrium	heart
31	chr15:39937600-39938000	Enhancers	Spleen	Spleen
32	chr15:39937600-39938400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:39937600-39938400	Enhancers	Esophagus	oesophagus

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