Variant report

Variant	rs2467872
Chromosome Location	chr15:45719942-45719943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1288647	0.82[AMR][1000 genomes]
rs1288847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1768457	0.82[AMR][1000 genomes]
rs1834689	0.82[AMR][1000 genomes]
rs2433612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433625	0.86[AMR][1000 genomes]
rs2453548	0.95[AMR][1000 genomes]
rs2467861	0.82[AMR][1000 genomes]
rs2467870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2467873	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486279	0.82[AMR][1000 genomes]
rs2486286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993757	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer 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	104 gene(s)	inside rSNPs	diseases
2	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
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45697000-45722200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:45706200-45722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:45706600-45722800	Weak transcription	Fetal Heart	heart
4	chr15:45710000-45720600	Weak transcription	A549	lung
5	chr15:45711400-45722400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:45711400-45722600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:45711600-45720800	Weak transcription	Small Intestine	intestine
8	chr15:45711600-45722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:45711600-45722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:45711800-45722200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:45711800-45722200	Weak transcription	Stomach Mucosa	stomach
12	chr15:45711800-45722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:45711800-45722400	Weak transcription	Pancreas	Pancrea
14	chr15:45711800-45722600	Weak transcription	Spleen	Spleen
15	chr15:45712000-45722200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:45712000-45722200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:45712000-45722400	Weak transcription	Brain Angular Gyrus	brain
18	chr15:45712000-45722400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:45712000-45722400	Weak transcription	Gastric	stomach
20	chr15:45712000-45722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:45712000-45722600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:45712000-45722600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:45712000-45722600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:45712200-45721600	Weak transcription	Esophagus	oesophagus
25	chr15:45712200-45721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:45712200-45722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:45712200-45722400	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:45712200-45722400	Weak transcription	Lung	lung
29	chr15:45712200-45722400	Weak transcription	Ovary	ovary
30	chr15:45712200-45722600	Weak transcription	Colonic Mucosa	Colon
31	chr15:45712200-45722600	Weak transcription	Psoas Muscle	Psoas
32	chr15:45712200-45722600	Weak transcription	Right Ventricle	heart
33	chr15:45712200-45722600	Weak transcription	NHLF	lung
34	chr15:45712400-45720600	Weak transcription	NHEK	skin
35	chr15:45712400-45722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:45712600-45722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:45712600-45722400	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:45712800-45722600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:45712800-45722800	Weak transcription	Primary T cells from cord blood	blood
40	chr15:45713200-45722600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:45713400-45721600	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:45713400-45722200	Weak transcription	Left Ventricle	heart
43	chr15:45713800-45722400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:45714000-45722200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:45714000-45722400	Weak transcription	Brain Anterior Caudate	brain
46	chr15:45714200-45722400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:45714200-45722400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:45714200-45722600	Weak transcription	HMEC	breast
49	chr15:45714200-45722600	Weak transcription	Osteobl	bone
50	chr15:45714600-45720600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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