Variant report

Variant	rs1236813
Chromosome Location	chr9:103342632-103342633
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12002878	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12005789	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1226587	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226589	0.84[AMR][1000 genomes]
rs1226590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226592	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1226593	0.80[AMR][1000 genomes]
rs1628249	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17742370	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2151597	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2184201	0.82[AMR][1000 genomes]
rs2483624	0.81[AMR][1000 genomes]
rs2780954	0.98[ASN][1000 genomes]
rs2780955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800282	0.84[AMR][1000 genomes]
rs2800283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2800284	0.82[AMR][1000 genomes]
rs2800285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2800289	0.98[ASN][1000 genomes]
rs2800290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57290629	0.93[ASN][1000 genomes]
rs60422299	0.93[ASN][1000 genomes]
rs951868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][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	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1236813	MURC	cis	Muscle Skeletal	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103307400-103347800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:103308600-103345400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:103318600-103344000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:103324800-103345400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:103327800-103349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:103329600-103360800	Weak transcription	Aorta	Aorta
7	chr9:103329800-103351800	Weak transcription	Ovary	ovary
8	chr9:103330000-103357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:103330400-103345400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:103330400-103351600	Weak transcription	Fetal Stomach	stomach
11	chr9:103330800-103349400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:103331600-103360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:103332400-103351600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:103332400-103357600	Weak transcription	Fetal Lung	lung
15	chr9:103333600-103360800	Weak transcription	Fetal Brain Male	brain
16	chr9:103334200-103351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:103334600-103350600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:103334800-103350200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:103335000-103351000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:103336800-103347800	Weak transcription	Brain Germinal Matrix	brain
21	chr9:103337400-103342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:103337600-103352200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:103338600-103348000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:103338800-103352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:103339600-103344600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr9:103340000-103344400	Active TSS	HSMMtube	muscle
27	chr9:103340000-103344600	Active TSS	Fetal Muscle Leg	muscle
28	chr9:103340000-103344600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:103340200-103344200	Active TSS	Right Atrium	heart
30	chr9:103340200-103344400	Active TSS	Right Ventricle	heart
31	chr9:103340200-103344800	Active TSS	Fetal Muscle Trunk	muscle
32	chr9:103340400-103344000	Active TSS	Fetal Heart	heart
33	chr9:103340600-103345200	Weak transcription	Fetal Brain Female	brain
34	chr9:103340600-103351800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:103340800-103351400	Weak transcription	NHDF-Ad	bronchial
36	chr9:103341000-103343000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:103341000-103351400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr9:103341200-103343200	Weak transcription	Brain Substantia Nigra	brain
39	chr9:103341200-103344400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:103341200-103345000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:103341600-103342800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:103341800-103342800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr9:103341800-103343000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:103341800-103344000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:103341800-103349000	Weak transcription	HUVEC	blood vessel
46	chr9:103342000-103343400	Active TSS	Left Ventricle	heart
47	chr9:103342000-103343400	Active TSS	Psoas Muscle	Psoas
48	chr9:103342000-103344200	Enhancers	Brain Angular Gyrus	brain
49	chr9:103342200-103343000	Enhancers	NH-A	brain
50	chr9:103342400-103342800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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