Variant report

Variant	rs950027
Chromosome Location	chr15:45801035-45801036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45800845..45803632-chr15:45812326..45814076,2	K562	blood:

Variant related genes	Relation type
ENSG00000179362	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1145089	0.85[CHB][hapmap]
rs1153835	0.85[CEU][hapmap]
rs12909221	0.82[MEX][hapmap]
rs1617984	0.82[CHB][hapmap]
rs2643718	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7178235	1.00[ASW][hapmap]
rs8043258	0.82[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap]

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	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
2	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to fenofibrate (adiponectin levels)	23149075	GWAS catalog

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs950027	GATM	cis	cerebellum	SCAN
rs950027	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs950027	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs950027	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs950027	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs950027	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs950027	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs950027	SLC28A2	cis	cerebellum	SCAN
rs950027	CTD-2651B20.3	cis	lung	GTEx
rs950027	CTD-2651B20.3	cis	Thyroid	GTEx
rs950027	CHST14	cis	parietal	SCAN
rs950027	SPATA5L1	cis	multi-tissue	Pritchard
rs950027	GATM	cis	multi-tissue	Pritchard
rs950027	SLC12A3	trans	parietal	SCAN
rs950027	GATM	cis	parietal	SCAN
rs950027	BMF	cis	parietal	SCAN
rs950027	FAM82A2	cis	cerebellum	SCAN
rs950027	CTD-2651B20.4	cis	Skin Sun Exposed Lower leg	GTEx
rs950027	CTD-2651B20.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:45757000-45801800	Weak transcription	Gastric	stomach
4	chr15:45767200-45813600	Weak transcription	Psoas Muscle	Psoas
5	chr15:45769200-45812000	Weak transcription	Small Intestine	intestine
6	chr15:45769400-45813000	Weak transcription	Fetal Intestine Large	intestine
7	chr15:45771000-45813400	Weak transcription	Right Ventricle	heart
8	chr15:45771200-45814000	Weak transcription	Placenta	Placenta
9	chr15:45772000-45801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:45773200-45814000	Weak transcription	Pancreas	Pancrea
11	chr15:45774600-45812800	Weak transcription	Fetal Brain Male	brain
12	chr15:45775600-45812800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr15:45778000-45813000	Weak transcription	Brain Germinal Matrix	brain
14	chr15:45778400-45801800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:45778400-45812600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:45778800-45806400	Weak transcription	Spleen	Spleen
17	chr15:45779400-45812800	Weak transcription	Fetal Brain Female	brain
18	chr15:45781200-45801800	Weak transcription	Aorta	Aorta
19	chr15:45781800-45801400	Weak transcription	Primary T cells from cord blood	blood
20	chr15:45781800-45801800	Weak transcription	Lung	lung
21	chr15:45781800-45802400	Weak transcription	Primary B cells from cord blood	blood
22	chr15:45783800-45812800	Weak transcription	Fetal Kidney	kidney
23	chr15:45788000-45812800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:45788200-45801800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:45788200-45810800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:45788600-45812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:45790800-45813000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:45792200-45808400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:45792200-45813600	Weak transcription	HUVEC	blood vessel
30	chr15:45792200-45813600	Weak transcription	NH-A	brain
31	chr15:45792400-45802000	Weak transcription	Brain Angular Gyrus	brain
32	chr15:45792400-45802400	Weak transcription	HSMM	muscle
33	chr15:45792400-45812800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:45792400-45812800	Weak transcription	NHDF-Ad	bronchial
35	chr15:45792400-45812800	Weak transcription	Osteobl	bone
36	chr15:45792400-45813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:45792600-45802800	Weak transcription	HSMMtube	muscle
38	chr15:45792600-45813200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:45792800-45812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:45793000-45801800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:45793000-45812800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:45795000-45801800	Weak transcription	Ovary	ovary
43	chr15:45795200-45801400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:45795200-45801800	Weak transcription	Fetal Intestine Small	intestine
45	chr15:45795200-45804400	Weak transcription	Colonic Mucosa	Colon
46	chr15:45795600-45812800	Weak transcription	Fetal Heart	heart
47	chr15:45796800-45812800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:45797800-45803400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:45797800-45813200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:45798400-45803600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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