Variant report

Variant	rs8024428
Chromosome Location	chr15:51247037-51247038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10744956	0.88[ASN][1000 genomes]
rs11070824	0.88[ASN][1000 genomes]
rs11070829	0.88[ASN][1000 genomes]
rs1147128	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147129	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147130	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147131	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147133	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147135	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147136	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147139	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632971	0.93[ASN][1000 genomes]
rs11635015	0.96[ASN][1000 genomes]
rs11635102	0.97[ASN][1000 genomes]
rs12438343	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441714	0.96[ASN][1000 genomes]
rs12595034	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708425	0.80[ASN][1000 genomes]
rs1276854	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12898208	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12898530	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12899459	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12902894	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12902899	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12904125	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904382	0.90[ASN][1000 genomes]
rs12904989	0.92[AFR][1000 genomes]
rs12905611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12906866	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908516	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12909519	0.80[ASN][1000 genomes]
rs12912295	0.95[ASN][1000 genomes]
rs12916407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371058	0.88[ASN][1000 genomes]
rs1472946	0.88[ASN][1000 genomes]
rs1509423	0.96[ASN][1000 genomes]
rs1550336	0.84[ASN][1000 genomes]
rs1550340	0.88[ASN][1000 genomes]
rs17703090	0.88[ASN][1000 genomes]
rs2118785	0.84[ASN][1000 genomes]
rs2127366	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2127367	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127368	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170011	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249535	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306331	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306332	0.96[ASN][1000 genomes]
rs2414078	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414080	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2414081	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614763	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2614776	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614779	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614780	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614781	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614782	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614784	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614789	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614790	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614791	0.88[ASN][1000 genomes]
rs2614792	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614794	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619686	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619687	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619688	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619691	0.83[ASN][1000 genomes]
rs2619693	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2619694	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663533	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663534	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2663535	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663537	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2663538	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2663541	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663543	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663544	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663545	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663546	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663548	0.81[ASN][1000 genomes]
rs2663550	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2663551	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2663553	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663554	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663555	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663556	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28702388	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3743045	0.89[ASN][1000 genomes]
rs3784301	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784302	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3784303	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4438254	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4444282	0.90[ASN][1000 genomes]
rs4534781	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4775910	0.88[ASN][1000 genomes]
rs62018857	0.83[ASN][1000 genomes]
rs6493469	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493471	0.82[ASN][1000 genomes]
rs6493473	0.84[ASN][1000 genomes]
rs6493476	0.84[ASN][1000 genomes]
rs714784	0.89[ASN][1000 genomes]
rs7162209	0.96[ASN][1000 genomes]
rs7168385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169888	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170311	0.95[ASN][1000 genomes]
rs7170365	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7170675	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7171085	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177267	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180258	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7181051	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7181201	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7181997	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7182957	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7184026	0.90[ASN][1000 genomes]
rs7494977	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026318	0.84[ASN][1000 genomes]
rs8029155	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8029369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030124	0.85[ASN][1000 genomes]
rs8030214	0.96[ASN][1000 genomes]
rs8031702	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8033934	0.88[ASN][1000 genomes]
rs8034236	0.90[ASN][1000 genomes]
rs8034576	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8035358	0.96[ASN][1000 genomes]
rs8041824	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv569403	chr15:51191421-51304373	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1038778	chr15:51196641-51356728	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv569404	chr15:51234595-51294995	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51201800-51248400	Weak transcription	Colonic Mucosa	Colon
2	chr15:51201800-51271600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:51205800-51249000	Weak transcription	Fetal Brain Male	brain
4	chr15:51205800-51254400	Weak transcription	Fetal Heart	heart
5	chr15:51208000-51250400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:51210600-51298400	Weak transcription	Stomach Mucosa	stomach
7	chr15:51213800-51247600	Weak transcription	Aorta	Aorta
8	chr15:51214600-51247800	Weak transcription	Esophagus	oesophagus
9	chr15:51231000-51247800	Weak transcription	Spleen	Spleen
10	chr15:51232400-51250400	Weak transcription	HepG2	liver
11	chr15:51232800-51254000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:51233800-51254200	Strong transcription	Placenta	Placenta
13	chr15:51235200-51263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:51237400-51247600	Weak transcription	K562	blood
15	chr15:51237400-51249600	Weak transcription	Small Intestine	intestine
16	chr15:51239600-51253000	Strong transcription	Primary T cells from cord blood	blood
17	chr15:51239800-51247800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:51240200-51247800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr15:51240200-51251600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:51240400-51248200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr15:51241000-51251600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:51241200-51252800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr15:51241400-51251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:51241800-51252400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:51241800-51253200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:51241800-51253800	Strong transcription	Adipose Nuclei	Adipose
27	chr15:51242000-51249000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:51242000-51253400	Strong transcription	Liver	Liver
29	chr15:51242200-51249000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:51242200-51254800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:51242400-51248800	Strong transcription	Dnd41	blood
32	chr15:51242400-51249200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:51242600-51253200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr15:51242600-51253200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr15:51242800-51253200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:51242800-51258200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:51243000-51252400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:51243400-51247800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:51243400-51252600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:51243600-51247400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:51243600-51247400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:51243600-51247400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:51243600-51247600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:51243600-51247800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:51243600-51247800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr15:51243600-51247800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:51243600-51247800	Weak transcription	Pancreas	Pancrea
48	chr15:51243600-51248800	Weak transcription	Right Ventricle	heart
49	chr15:51243600-51250200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:51243600-51250400	Weak transcription	Colon Smooth Muscle	Colon

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