Variant report

Variant	rs72711278
Chromosome Location	chr15:45797476-45797477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1153830	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1153831	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1153832	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16944629	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1768458	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2088164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433600	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433617	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2433619	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35828336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448883	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55997350	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56179992	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405528	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59574269	0.87[EUR][1000 genomes]
rs60350201	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60992352	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61193305	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493154	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493157	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6493158	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493160	0.90[EUR][1000 genomes]
rs7165838	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7169748	0.90[EUR][1000 genomes]
rs7171406	0.90[EUR][1000 genomes]
rs7173983	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72711264	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711280	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711284	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711290	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711294	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72711301	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72713103	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72713104	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72713105	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8023437	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8025407	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8029509	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8040466	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8042811	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:45757000-45801800	Weak transcription	Gastric	stomach
4	chr15:45767200-45813600	Weak transcription	Psoas Muscle	Psoas
5	chr15:45769200-45812000	Weak transcription	Small Intestine	intestine
6	chr15:45769400-45813000	Weak transcription	Fetal Intestine Large	intestine
7	chr15:45771000-45813400	Weak transcription	Right Ventricle	heart
8	chr15:45771200-45814000	Weak transcription	Placenta	Placenta
9	chr15:45772000-45801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:45773200-45814000	Weak transcription	Pancreas	Pancrea
11	chr15:45774600-45812800	Weak transcription	Fetal Brain Male	brain
12	chr15:45775600-45812800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr15:45776000-45800400	Weak transcription	Esophagus	oesophagus
14	chr15:45778000-45813000	Weak transcription	Brain Germinal Matrix	brain
15	chr15:45778400-45801800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:45778400-45812600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:45778800-45806400	Weak transcription	Spleen	Spleen
18	chr15:45779400-45812800	Weak transcription	Fetal Brain Female	brain
19	chr15:45779800-45799800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:45779800-45800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:45780000-45800000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:45780000-45800000	Weak transcription	Liver	Liver
23	chr15:45780400-45800200	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:45781200-45800200	Weak transcription	Brain Substantia Nigra	brain
25	chr15:45781200-45801800	Weak transcription	Aorta	Aorta
26	chr15:45781600-45797800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:45781800-45798400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:45781800-45800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:45781800-45800000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr15:45781800-45800000	Weak transcription	Fetal Lung	lung
31	chr15:45781800-45800400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:45781800-45801400	Weak transcription	Primary T cells from cord blood	blood
33	chr15:45781800-45801800	Weak transcription	Lung	lung
34	chr15:45781800-45802400	Weak transcription	Primary B cells from cord blood	blood
35	chr15:45782000-45800200	Weak transcription	Left Ventricle	heart
36	chr15:45782600-45800000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr15:45783800-45800000	Weak transcription	Adipose Nuclei	Adipose
38	chr15:45783800-45812800	Weak transcription	Fetal Kidney	kidney
39	chr15:45784000-45800000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:45788000-45812800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:45788200-45798600	Weak transcription	Brain Anterior Caudate	brain
42	chr15:45788200-45801800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:45788200-45810800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:45788600-45812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:45790800-45813000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:45792200-45808400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:45792200-45813600	Weak transcription	HUVEC	blood vessel
48	chr15:45792200-45813600	Weak transcription	NH-A	brain
49	chr15:45792400-45800400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:45792400-45800400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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