Variant report

Variant	rs1523126
Chromosome Location	chr3:43131617-43131618
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1072822	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1125065	0.84[GIH][hapmap];0.86[MEX][hapmap]
rs12233614	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12485530	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485578	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12487785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12497427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12497602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1523125	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1566422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17391761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17470089	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1815070	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1949583	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1949584	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488069	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55764298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55819365	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55945909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55954171	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs604033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6796161	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73074962	0.80[EUR][1000 genomes]
rs7624799	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1523126	ABHD5	cis	parietal	SCAN
rs1523126	CCDC13	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43119600-43135000	Weak transcription	Psoas Muscle	Psoas
2	chr3:43119800-43143800	Weak transcription	Fetal Heart	heart
3	chr3:43122400-43134400	Weak transcription	HepG2	liver
4	chr3:43122400-43145800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr3:43122600-43145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:43122800-43132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:43122800-43132200	Weak transcription	Fetal Lung	lung
8	chr3:43122800-43133000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:43122800-43134800	Weak transcription	Brain Substantia Nigra	brain
10	chr3:43122800-43136000	Weak transcription	Pancreas	Pancrea
11	chr3:43122800-43136400	Weak transcription	HSMMtube	muscle
12	chr3:43122800-43145600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:43123000-43132200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:43123000-43132600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:43123000-43135200	Weak transcription	Brain Angular Gyrus	brain
16	chr3:43123000-43136000	Weak transcription	Right Ventricle	heart
17	chr3:43123000-43144400	Weak transcription	Fetal Intestine Large	intestine
18	chr3:43123000-43146400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:43123000-43146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:43123200-43132000	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:43123200-43140400	Weak transcription	Gastric	stomach
22	chr3:43123200-43144400	Weak transcription	Spleen	Spleen
23	chr3:43123200-43145000	Weak transcription	Adipose Nuclei	Adipose
24	chr3:43123400-43146400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:43123600-43135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:43123600-43135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:43123600-43143600	Weak transcription	Lung	lung
28	chr3:43123600-43146600	Weak transcription	Fetal Intestine Small	intestine
29	chr3:43123800-43132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:43123800-43136400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:43124000-43133400	Weak transcription	Fetal Brain Male	brain
32	chr3:43124000-43134600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:43124200-43135600	Weak transcription	Fetal Brain Female	brain
34	chr3:43124200-43145000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:43124400-43132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:43124400-43135600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:43124400-43136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:43124400-43136200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:43124400-43144200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:43124400-43146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:43124400-43146600	Weak transcription	Aorta	Aorta
42	chr3:43124600-43131800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:43124600-43132000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:43124600-43138600	Weak transcription	Thymus	Thymus
45	chr3:43124600-43144800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:43124600-43146800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:43127000-43144400	Weak transcription	Dnd41	blood
48	chr3:43128400-43134600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:43128600-43134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:43129000-43139600	Weak transcription	Liver	Liver

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