Variant report

Variant	rs12148874
Chromosome Location	chr15:77142037-77142038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3110377	1.00[TSI][hapmap]

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	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12148874	SCAPER	cis	cerebellum	SCAN
rs12148874	SCAPER	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77111600-77144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr15:77111600-77174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:77115400-77144600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:77116800-77144000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:77120400-77158400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:77120800-77143400	Weak transcription	Adipose Nuclei	Adipose
8	chr15:77123200-77144800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:77123200-77153200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:77124400-77149600	Weak transcription	HepG2	liver
11	chr15:77125600-77142600	Weak transcription	Ovary	ovary
12	chr15:77125800-77175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:77126000-77145600	Weak transcription	Aorta	Aorta
14	chr15:77126400-77143000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:77127000-77142200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:77130200-77143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:77130600-77147400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:77130800-77142400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:77131200-77155600	Weak transcription	Left Ventricle	heart
20	chr15:77131400-77148000	Weak transcription	Placenta	Placenta
21	chr15:77131800-77144000	Weak transcription	HSMM	muscle
22	chr15:77132600-77142200	Weak transcription	Liver	Liver
23	chr15:77133000-77142800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:77133200-77147600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:77133200-77196800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:77133400-77142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:77133800-77143600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:77136600-77143000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:77137000-77144000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:77139600-77142800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr15:77139600-77144000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:77139800-77145600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:77139800-77155600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:77139800-77158400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:77140000-77144800	Weak transcription	NHLF	lung
36	chr15:77140000-77153600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:77140400-77144400	Weak transcription	Brain Anterior Caudate	brain
38	chr15:77140400-77144800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:77140800-77195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:77141000-77144800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:77141200-77142800	Strong transcription	Thymus	Thymus
42	chr15:77141200-77143000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:77141200-77143200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:77141200-77143200	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:77141200-77143200	ZNF genes & repeats	Fetal Stomach	stomach
46	chr15:77141200-77143400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:77141200-77143800	Weak transcription	Fetal Lung	lung
48	chr15:77141200-77144200	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr15:77141200-77146400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr15:77141400-77142200	ZNF genes & repeats	Lung	lung

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