Variant report

Variant	rs12148570
Chromosome Location	chr15:41996653-41996654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11630972	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633160	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11634804	0.83[EUR][1000 genomes]
rs11636523	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1197671	0.81[EUR][1000 genomes]
rs12906666	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12917387	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677098	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677757	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17678310	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17733703	0.83[AFR][1000 genomes]
rs2178003	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34621600	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35665813	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714979	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61104950	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62003901	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167078	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175318	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042809	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9646193	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049514	chr15:41958482-42081210	Weak transcription Strong transcription Active TSS Enhancers 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1048655	chr15:41978391-42049360	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41954600-42001000	Weak transcription	Colonic Mucosa	Colon
2	chr15:41962000-42001400	Weak transcription	Gastric	stomach
3	chr15:41962200-42001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:41971600-41997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:41972400-42065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:41972800-41999600	Weak transcription	Fetal Brain Female	brain
7	chr15:41983000-42001200	Weak transcription	Ovary	ovary
8	chr15:41983200-42002600	Weak transcription	Small Intestine	intestine
9	chr15:41984200-42034800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:41984400-42002800	Weak transcription	A549	lung
11	chr15:41984600-41999200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:41984600-41999400	Weak transcription	Thymus	Thymus
13	chr15:41984600-41999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:41984600-42000600	Weak transcription	Lung	lung
15	chr15:41984600-42001600	Weak transcription	Pancreas	Pancrea
16	chr15:41984800-41998800	Weak transcription	Left Ventricle	heart
17	chr15:41984800-41999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:41984800-42000800	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:41984800-42001200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:41984800-42001400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:41984800-42003000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:41987600-42001200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:41988600-42001200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:41988600-42003000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:41988600-42003000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:41988800-42002200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:41988800-42003000	Weak transcription	Fetal Kidney	kidney
28	chr15:41989000-41997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:41989000-41999000	Weak transcription	Fetal Lung	lung
30	chr15:41989000-42003000	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:41989000-42041600	Weak transcription	Fetal Brain Male	brain
32	chr15:41989200-41998800	Weak transcription	Dnd41	blood
33	chr15:41989200-41999400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:41989200-41999400	Weak transcription	Placenta	Placenta
35	chr15:41989200-42000400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:41989200-42000800	Weak transcription	Psoas Muscle	Psoas
37	chr15:41989200-42000800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:41989200-42001000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:41989200-42001000	Weak transcription	Brain Angular Gyrus	brain
40	chr15:41989200-42001000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:41989200-42001200	Weak transcription	Brain Anterior Caudate	brain
42	chr15:41989200-42001200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:41989200-42001200	Weak transcription	Right Ventricle	heart
44	chr15:41989200-42001600	Weak transcription	HSMMtube	muscle
45	chr15:41989200-42003000	Weak transcription	Brain Substantia Nigra	brain
46	chr15:41989200-42005000	Weak transcription	Fetal Heart	heart
47	chr15:41989200-42009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:41989400-41999400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:41989400-41999800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:41989400-42000800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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