Variant report

Variant	rs2108601
Chromosome Location	chr15:92708268-92708269
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10520704	1.00[CHB][hapmap];0.83[CHD][hapmap];0.94[ASN][1000 genomes]
rs1053909	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[ASN][1000 genomes]
rs56066897	0.85[ASN][1000 genomes]
rs62008656	0.85[ASN][1000 genomes]
rs7172018	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.95[ASN][1000 genomes]
rs7181257	0.95[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs73542687	0.80[ASN][1000 genomes]
rs74028846	0.85[ASN][1000 genomes]
rs748851	0.88[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs9806493	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2108601	AGBL1	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
3	chr15:92671800-92709200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:92684000-92713200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr15:92684400-92713200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr15:92687600-92719400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:92690600-92714600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:92692800-92712400	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:92692800-92715200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr15:92693200-92712600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:92699000-92711800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:92700600-92712600	Weak transcription	Aorta	Aorta
13	chr15:92702200-92710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:92702400-92710000	Weak transcription	NHEK	skin
15	chr15:92703200-92710800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:92703400-92712800	Weak transcription	Brain Substantia Nigra	brain
17	chr15:92703600-92711000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:92703800-92712400	Weak transcription	Brain Angular Gyrus	brain
19	chr15:92704200-92710400	Weak transcription	Small Intestine	intestine
20	chr15:92704200-92713200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:92705400-92709000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:92705600-92709400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:92705800-92708400	Enhancers	Fetal Brain Male	brain
24	chr15:92706000-92708400	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr15:92706000-92708800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:92706000-92710400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:92706200-92714800	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:92706400-92708600	Enhancers	HSMMtube	muscle
29	chr15:92706400-92709200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:92706400-92709200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:92706400-92709800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:92706400-92713400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:92706400-92714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:92706600-92708400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr15:92706600-92709000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:92706800-92708600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:92706800-92708600	Enhancers	Stomach Mucosa	stomach
38	chr15:92706800-92709800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:92706800-92710200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:92706800-92711600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr15:92707000-92708400	Enhancers	Fetal Brain Female	brain
42	chr15:92707000-92710200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr15:92707000-92710200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:92707000-92712400	Enhancers	Fetal Heart	heart
45	chr15:92707200-92709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:92707200-92709600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr15:92707200-92709600	Weak transcription	Fetal Stomach	stomach
48	chr15:92707200-92709600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:92707200-92709600	Weak transcription	Right Ventricle	heart
50	chr15:92707200-92710000	Enhancers	HUES64 Cell Line	embryonic stem cell

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