Variant report

Variant	rs2137016
Chromosome Location	chr3:141006396-141006397
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1026716	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs10935425	0.89[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10935427	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10935428	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486843	0.81[CEU][hapmap]
rs12488569	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12631017	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs13069904	0.82[TSI][hapmap]
rs13088065	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1511379	0.81[CEU][hapmap]
rs1567558	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1567559	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1877223	0.86[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6779870	0.83[MEX][hapmap]
rs6786821	0.81[CEU][hapmap]
rs7652530	0.83[MEX][hapmap]
rs938071	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9816975	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9819731	0.85[CEU][hapmap]
rs9838061	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9840622	0.83[AMR][1000 genomes];0.86[EUR][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	nsv877551	chr3:140970556-141029860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2137016	ACPL2	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
2	chr3:140979000-141013200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:140981200-141013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:140981200-141013400	Weak transcription	Colonic Mucosa	Colon
5	chr3:140983600-141021600	Weak transcription	Esophagus	oesophagus
6	chr3:140984800-141006400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:140988200-141022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:140993200-141014200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:140994400-141009000	Strong transcription	Dnd41	blood
10	chr3:140994600-141006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:140994600-141012400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:140994600-141013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:140995200-141007000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:140995400-141009000	Weak transcription	HepG2	liver
15	chr3:140996000-141012400	Strong transcription	Thymus	Thymus
16	chr3:140996200-141012400	Strong transcription	Primary T cells from cord blood	blood
17	chr3:140996400-141012800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:140997200-141013800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:140998000-141012800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:140998200-141006800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:140998200-141010400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:140998200-141010600	Weak transcription	Psoas Muscle	Psoas
23	chr3:140998200-141012400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:140998200-141013400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:140998400-141006600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:140998400-141010400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:140998400-141011400	Weak transcription	Liver	Liver
28	chr3:140998600-141012400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:140998600-141013800	Weak transcription	Fetal Brain Male	brain
30	chr3:140998800-141012000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:140998800-141012600	Strong transcription	Fetal Thymus	thymus
32	chr3:140999000-141007200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:140999000-141009800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:140999200-141008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:140999200-141014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:140999400-141007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:140999400-141014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:140999800-141006600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:140999800-141008400	Weak transcription	NHDF-Ad	bronchial
40	chr3:140999800-141010400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:140999800-141010800	Weak transcription	Fetal Intestine Large	intestine
42	chr3:141000000-141012200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:141000200-141008000	Weak transcription	HSMM	muscle
44	chr3:141000400-141008200	Weak transcription	HSMMtube	muscle
45	chr3:141001000-141006400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:141001200-141006800	Weak transcription	Gastric	stomach
47	chr3:141001200-141010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:141001400-141006600	Weak transcription	Fetal Lung	lung
49	chr3:141001400-141006800	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:141001400-141006800	Weak transcription	Fetal Kidney	kidney

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