Variant report

Variant	rs12148274
Chromosome Location	chr15:77528368-77528369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1015813	0.93[ASN][1000 genomes]
rs11853625	0.89[ASN][1000 genomes]
rs11854466	0.82[ASN][1000 genomes]
rs11856513	0.82[ASN][1000 genomes]
rs11857330	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12324366	0.89[ASN][1000 genomes]
rs12900110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12902106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12902434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12902446	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12912963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374201	0.82[ASN][1000 genomes]
rs1446313	0.82[ASN][1000 genomes]
rs16968730	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17383078	0.83[ASN][1000 genomes]
rs17466480	0.83[EUR][1000 genomes]
rs17468413	0.91[ASN][1000 genomes]
rs2044453	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2137977	0.82[ASN][1000 genomes]
rs2292594	0.89[ASN][1000 genomes]
rs2864079	0.82[ASN][1000 genomes]
rs34572155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4592615	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4638539	0.82[ASN][1000 genomes]
rs4886514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886857	0.82[ASN][1000 genomes]
rs55881066	0.89[ASN][1000 genomes]
rs55994208	0.87[ASN][1000 genomes]
rs56070388	0.89[ASN][1000 genomes]
rs58792939	0.89[ASN][1000 genomes]
rs60079927	0.82[ASN][1000 genomes]
rs60761381	0.93[ASN][1000 genomes]
rs60863150	0.89[ASN][1000 genomes]
rs7163620	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7182221	0.82[ASN][1000 genomes]
rs74025104	0.89[ASN][1000 genomes]
rs74025105	0.82[ASN][1000 genomes]
rs74027548	0.89[ASN][1000 genomes]
rs74027549	0.91[ASN][1000 genomes]
rs9806326	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][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	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
2	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1041064	chr15:77497903-77631698	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77492400-77544000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:77505800-77559400	Weak transcription	Psoas Muscle	Psoas
3	chr15:77508000-77543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:77511200-77541800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:77517200-77531600	Weak transcription	NHDF-Ad	bronchial
6	chr15:77517400-77559000	Weak transcription	Ovary	ovary
7	chr15:77517600-77528600	Weak transcription	Primary B cells from cord blood	blood
8	chr15:77517600-77543200	Weak transcription	HSMM	muscle
9	chr15:77517600-77545800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:77517800-77535400	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:77517800-77544200	Weak transcription	NHLF	lung
12	chr15:77519400-77530800	Weak transcription	Fetal Heart	heart
13	chr15:77519400-77551800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:77519600-77551800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:77519800-77557200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:77520000-77540000	Weak transcription	HUVEC	blood vessel
17	chr15:77520200-77578800	Weak transcription	Small Intestine	intestine
18	chr15:77521200-77529400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:77521600-77529000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:77523200-77544000	Weak transcription	Pancreas	Pancrea
21	chr15:77523400-77528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:77524200-77528400	Weak transcription	Right Ventricle	heart
23	chr15:77526400-77547600	Weak transcription	Liver	Liver
24	chr15:77526600-77538600	Weak transcription	Osteobl	bone
25	chr15:77526800-77528400	Weak transcription	Gastric	stomach
26	chr15:77527000-77559000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:77527000-77576200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:77527200-77529200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:77527200-77529400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:77527200-77529400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr15:77527200-77529400	Strong transcription	Fetal Intestine Large	intestine
32	chr15:77527400-77529400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr15:77527400-77529400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:77527400-77529400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:77527400-77530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:77527600-77529800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr15:77527800-77528600	ZNF genes & repeats	Placenta	Placenta
38	chr15:77527800-77528800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:77527800-77528800	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr15:77527800-77528800	Strong transcription	HepG2	liver
41	chr15:77527800-77529000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:77527800-77529000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr15:77527800-77529200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr15:77527800-77529200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr15:77527800-77529200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:77527800-77529200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:77527800-77529400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:77527800-77529400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:77527800-77529400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:77527800-77529400	Strong transcription	Fetal Muscle Trunk	muscle

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