Variant report

Variant	rs10047581
Chromosome Location	chr12:32719928-32719929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10129043	1.00[CHB][hapmap]
rs10743799	0.92[CHB][hapmap]
rs10743800	1.00[CHB][hapmap]
rs10771966	0.92[CHB][hapmap]
rs10844247	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844249	0.92[CHB][hapmap]
rs10844250	0.91[CHB][hapmap]
rs10844251	1.00[CHB][hapmap]
rs11052090	0.92[CHB][hapmap]
rs11052094	1.00[CHB][hapmap]
rs11052095	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1472501	0.90[CHB][hapmap]
rs1472502	0.92[CHB][hapmap]
rs1909513	1.00[CHB][hapmap]
rs1979824	0.92[CHB][hapmap]
rs1979826	0.92[CHB][hapmap]
rs2036267	1.00[CHB][hapmap]
rs2291884	0.92[CHB][hapmap]
rs4931018	0.92[CHB][hapmap]
rs4931639	1.00[CHB][hapmap]
rs6488067	0.92[CHB][hapmap]
rs6488068	0.92[CHB][hapmap]
rs6488069	1.00[CHB][hapmap]
rs6488071	1.00[CHB][hapmap]
rs7300661	1.00[CHB][hapmap]
rs7308071	1.00[CHB][hapmap]
rs73083412	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954226	1.00[CHB][hapmap]
rs7964734	1.00[CHB][hapmap]
rs7965993	1.00[CHB][hapmap]
rs7977053	0.92[CHB][hapmap]
rs7979016	1.00[CHB][hapmap]
rs904582	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10047581	YARS2	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32711800-32724800	Weak transcription	Fetal Brain Male	brain
3	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
6	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:32714800-32720000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:32715200-32720200	Weak transcription	Small Intestine	intestine
10	chr12:32715200-32720200	Weak transcription	NHLF	lung
11	chr12:32715200-32722200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:32715200-32735000	Weak transcription	Placenta	Placenta
13	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
14	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:32715400-32730600	Weak transcription	Fetal Stomach	stomach
16	chr12:32717000-32720000	Strong transcription	Liver	Liver
17	chr12:32717000-32722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:32717000-32723000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:32717000-32723000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:32717000-32723600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:32717400-32722200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:32717400-32722200	Enhancers	Brain Anterior Caudate	brain
23	chr12:32717800-32720000	Weak transcription	Esophagus	oesophagus
24	chr12:32717800-32720400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:32717800-32721200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:32718200-32722600	Enhancers	Brain Angular Gyrus	brain
27	chr12:32718200-32722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:32718400-32721000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:32718400-32722600	Enhancers	Stomach Mucosa	stomach
30	chr12:32718600-32721200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:32718600-32722600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:32718600-32722600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:32718800-32720600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:32718800-32722600	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:32719000-32720000	Enhancers	Psoas Muscle	Psoas
36	chr12:32719000-32720200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:32719000-32720400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:32719000-32720400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:32719000-32720400	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr12:32719000-32720400	Genic enhancers	Aorta	Aorta
41	chr12:32719000-32720400	Enhancers	Pancreas	Pancrea
42	chr12:32719000-32720400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:32719000-32720600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:32719000-32720800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:32719000-32720800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:32719000-32720800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr12:32719000-32721000	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:32719000-32721000	Enhancers	Fetal Intestine Small	intestine
49	chr12:32719000-32721000	Enhancers	Left Ventricle	heart
50	chr12:32719000-32721000	Enhancers	Right Atrium	heart

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