Variant report

Variant	rs870225
Chromosome Location	chr20:23186815-23186816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23184876..23187831-chr20:23190758..23193242,2	K562	blood:
2	chr20:23186331..23188352-chr20:23190022..23192258,2	K562	blood:
3	chr20:23181724..23187567-chr20:23190860..23194115,6	MCF-7	breast:
4	chr20:23181615..23184687-chr20:23185020..23187580,3	K562	blood:
5	chr20:22794571..22796277-chr20:23186495..23188754,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1005856	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1099456	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11696272	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1338942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1338944	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1416399	0.88[ASN][1000 genomes]
rs1538445	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1538446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1572707	0.87[ASN][1000 genomes]
rs1856470	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2024897	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036338	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6048591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048612	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048615	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048618	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048619	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6076038	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6076039	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6076041	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6083030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6083032	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6083033	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6083036	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6083038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6083042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6083043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6106616	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6113992	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6132576	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6132577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132578	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132579	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62206882	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs750652	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8118328	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844924	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844929	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844930	0.95[ASN][1000 genomes]
rs844932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844935	0.95[MEX][hapmap]
rs844936	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844938	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844940	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844941	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs867909	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs870225	ABHD12	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23182600-23187800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:23183600-23187000	Enhancers	Brain Substantia Nigra	brain
3	chr20:23183600-23187000	Enhancers	Fetal Heart	heart
4	chr20:23183600-23189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:23184800-23187000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:23184800-23187200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr20:23184800-23187200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:23184800-23187400	Enhancers	Fetal Lung	lung
9	chr20:23184800-23187800	Enhancers	Brain Germinal Matrix	brain
10	chr20:23184800-23188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:23184800-23189000	Enhancers	Fetal Muscle Leg	muscle
12	chr20:23185000-23187000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:23185000-23187200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:23185000-23187200	Enhancers	Brain Anterior Caudate	brain
15	chr20:23185000-23187400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:23185000-23187400	Enhancers	Esophagus	oesophagus
17	chr20:23185000-23188000	Enhancers	Left Ventricle	heart
18	chr20:23185000-23188800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:23185000-23188800	Enhancers	Fetal Muscle Trunk	muscle
20	chr20:23185000-23188800	Enhancers	Placenta	Placenta
21	chr20:23185200-23187000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr20:23185200-23187000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr20:23185200-23187200	Enhancers	Brain Hippocampus Middle	brain
24	chr20:23185200-23187800	Enhancers	Right Ventricle	heart
25	chr20:23185400-23187600	Enhancers	Adipose Nuclei	Adipose
26	chr20:23185400-23187800	Enhancers	Fetal Stomach	stomach
27	chr20:23185600-23187200	Enhancers	Brain Cingulate Gyrus	brain
28	chr20:23185600-23187200	Enhancers	Stomach Mucosa	stomach
29	chr20:23185600-23187400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr20:23185600-23189600	Weak transcription	K562	blood
31	chr20:23185800-23187000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr20:23185800-23187000	Enhancers	Aorta	Aorta
33	chr20:23185800-23187000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr20:23185800-23187200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr20:23186000-23187000	Enhancers	Fetal Brain Female	brain
36	chr20:23186000-23187200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr20:23186000-23187600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr20:23186200-23187200	Enhancers	Fetal Intestine Small	intestine
39	chr20:23186400-23187000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr20:23186400-23187200	Enhancers	Brain Angular Gyrus	brain
41	chr20:23186400-23187200	Enhancers	Small Intestine	intestine
42	chr20:23186400-23187400	Enhancers	Right Atrium	heart
43	chr20:23186400-23187600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:23186600-23187000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:23186600-23187000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr20:23186600-23187000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
47	chr20:23186600-23187000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr20:23186600-23187000	Enhancers	Colonic Mucosa	Colon
49	chr20:23186600-23187000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr20:23186600-23187000	Enhancers	Lung	lung

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