Variant report

Variant	rs12594746
Chromosome Location	chr15:44737198-44737199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10152710	0.94[EUR][1000 genomes]
rs1021800	0.94[EUR][1000 genomes]
rs10467977	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591178	1.00[EUR][1000 genomes]
rs12591581	0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes]
rs12592995	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593125	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes]
rs12593943	0.94[EUR][1000 genomes]
rs12594110	0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes]
rs12594167	1.00[EUR][1000 genomes]
rs12594621	0.94[EUR][1000 genomes]
rs12594645	0.94[EUR][1000 genomes]
rs12595484	0.94[EUR][1000 genomes]
rs17551416	0.94[EUR][1000 genomes]
rs2055061	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288341	0.94[EUR][1000 genomes]
rs2288342	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2303577	0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412909	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2433350	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2555353	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2556562	0.89[ASN][1000 genomes]
rs2556566	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2556567	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28508235	0.94[EUR][1000 genomes]
rs28561508	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs35555389	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784565	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784567	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3809471	1.00[EUR][1000 genomes]
rs3816928	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3986142	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3986143	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4415978	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4477677	1.00[EUR][1000 genomes]
rs4577056	1.00[EUR][1000 genomes]
rs57270586	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58956090	1.00[EUR][1000 genomes]
rs59230801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60399672	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61185650	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61234123	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61258861	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61501839	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493103	0.82[EUR][1000 genomes]
rs7162671	0.94[EUR][1000 genomes]
rs7162802	0.94[EUR][1000 genomes]
rs7163287	0.85[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes]
rs7164709	0.94[EUR][1000 genomes]
rs7166278	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7166945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7167752	0.94[EUR][1000 genomes]
rs7167870	0.81[AMR][1000 genomes]
rs7169333	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7170248	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172106	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7175200	0.94[EUR][1000 genomes]
rs7178318	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7179894	0.94[EUR][1000 genomes]
rs7181772	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183109	0.89[EUR][1000 genomes]
rs8023453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8024623	0.94[EUR][1000 genomes]
rs8024805	0.94[EUR][1000 genomes]
rs8025727	0.94[EUR][1000 genomes]
rs8025876	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8025955	0.94[EUR][1000 genomes]
rs8026945	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8027036	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8028509	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8028907	0.82[EUR][1000 genomes]
rs8032079	0.94[EUR][1000 genomes]
rs8037395	0.82[EUR][1000 genomes]
rs883943	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9672237	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9673085	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806725	0.84[EUR][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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44720400-44740000	Weak transcription	Esophagus	oesophagus
2	chr15:44720400-44740000	Weak transcription	Pancreas	Pancrea
3	chr15:44720600-44740000	Weak transcription	Aorta	Aorta
4	chr15:44720800-44754000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:44721600-44750800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr15:44721600-44751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:44721600-44753000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:44721800-44739800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:44721800-44750600	Weak transcription	Fetal Lung	lung
11	chr15:44721800-44750800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:44721800-44751800	Weak transcription	Primary B cells from cord blood	blood
13	chr15:44722200-44739800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:44722600-44739800	Weak transcription	Thymus	Thymus
15	chr15:44722600-44751200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr15:44722800-44760600	Weak transcription	Small Intestine	intestine
17	chr15:44725200-44739800	Weak transcription	Lung	lung
18	chr15:44725800-44756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:44726200-44739800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:44726800-44739800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:44726800-44739800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:44726800-44740000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:44727000-44740000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:44727000-44740000	Weak transcription	Fetal Thymus	thymus
25	chr15:44727200-44739800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:44728200-44740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:44728400-44739800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:44728400-44740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:44728800-44740000	Weak transcription	Primary T cells from cord blood	blood
30	chr15:44728800-44740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:44728800-44740000	Weak transcription	NHLF	lung
32	chr15:44728800-44751800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:44728800-44753000	Weak transcription	HMEC	breast
34	chr15:44728800-44754200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:44728800-44755800	Weak transcription	HSMM	muscle
36	chr15:44728800-44760600	Weak transcription	NHEK	skin
37	chr15:44729000-44740000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:44729000-44751200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:44729000-44751200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:44730000-44739800	Weak transcription	Dnd41	blood
41	chr15:44730800-44741000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:44732000-44742200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:44733600-44739000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:44733600-44739800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:44733600-44739800	Weak transcription	Right Ventricle	heart
46	chr15:44733600-44740000	Weak transcription	Gastric	stomach
47	chr15:44733600-44740000	Weak transcription	Left Ventricle	heart
48	chr15:44733600-44749400	Weak transcription	Brain Angular Gyrus	brain
49	chr15:44733600-44752000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:44733600-44760600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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