Variant report

Variant	rs12440091
Chromosome Location	chr15:58982508-58982509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11853494	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11856657	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12437955	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12437998	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12438487	0.86[AMR][1000 genomes]
rs12440267	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12441313	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12441912	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12442451	0.81[EUR][1000 genomes]
rs12442956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12591543	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12592332	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12708455	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12905110	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12905173	0.86[AMR][1000 genomes]
rs12906705	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12908261	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12910927	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12912286	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12912327	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12913383	0.81[AMR][1000 genomes]
rs12915950	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12916010	0.84[AMR][1000 genomes]
rs16940589	0.86[AMR][1000 genomes]
rs16940647	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17301905	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17301954	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1820480	0.81[AMR][1000 genomes]
rs1820548	0.88[AMR][1000 genomes]
rs2052804	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052805	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303532	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28417700	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28455654	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28457680	0.88[AMR][1000 genomes]
rs28489732	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28542491	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28549001	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28576281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28584993	0.86[AMR][1000 genomes]
rs28600144	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28609304	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28637832	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28639679	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28724298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28734088	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28818840	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28852159	0.83[AMR][1000 genomes]
rs35499736	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35956992	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs544282	0.84[ASN][1000 genomes]
rs6494030	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6494031	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6494032	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6494033	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6494034	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6494038	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7163733	0.82[EUR][1000 genomes]
rs7163939	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7164620	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7165035	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7165402	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7166325	0.81[AMR][1000 genomes]
rs7167528	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7170314	0.86[AMR][1000 genomes]
rs7180550	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8026668	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8029805	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8033565	0.86[AMR][1000 genomes]
rs8033691	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8035960	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8036005	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8036448	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8039791	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8040358	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9302203	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9744518	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9920042	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9920310	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9920720	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	87 gene(s)	inside rSNPs	diseases
5	nsv974583	chr15:58979010-58987450	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
2	chr15:58923400-58982800	Weak transcription	Lung	lung
3	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:58936200-58991400	Weak transcription	HMEC	breast
5	chr15:58951200-58987000	Weak transcription	NHEK	skin
6	chr15:58955200-58988400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:58956600-58984400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:58956600-58984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:58956600-58987400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:58957400-58984400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:58957600-58989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:58958800-58989000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:58960400-58982800	Weak transcription	Aorta	Aorta
14	chr15:58960400-58989600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:58961600-58987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:58961800-58984600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:58962000-58986800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:58962000-58987200	Weak transcription	Fetal Lung	lung
19	chr15:58968200-58984000	Weak transcription	Brain Germinal Matrix	brain
20	chr15:58968400-58987000	Weak transcription	Fetal Kidney	kidney
21	chr15:58969200-58984200	Weak transcription	Fetal Intestine Large	intestine
22	chr15:58970600-58987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:58971400-58982800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:58971400-58982800	Weak transcription	Dnd41	blood
25	chr15:58971800-58982800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr15:58971800-58984800	Weak transcription	NHDF-Ad	bronchial
27	chr15:58971800-58986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:58972000-58986600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:58972400-58982800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:58972400-58984200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:58972600-58983000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:58972600-58983000	Weak transcription	Spleen	Spleen
33	chr15:58972600-58984400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:58972600-58984400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:58972600-58988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:58972600-58988800	Weak transcription	Fetal Stomach	stomach
37	chr15:58972600-58989000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:58973200-58984600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr15:58973200-58984800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:58973600-58984200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:58974600-58991000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:58975800-58989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:58976800-58982800	Weak transcription	Psoas Muscle	Psoas
44	chr15:58976800-58983200	Weak transcription	HSMMtube	muscle
45	chr15:58976800-58984200	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:58976800-58986400	Weak transcription	Gastric	stomach
47	chr15:58976800-58986600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:58977000-58982800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:58977000-58982800	Weak transcription	Brain Angular Gyrus	brain
50	chr15:58977000-58982800	Weak transcription	Right Ventricle	heart

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