Variant report

Variant	rs1341279
Chromosome Location	chr6:81038412-81038413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3792990	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805878	0.85[TSI][hapmap]
rs3812114	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812117	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812118	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs600843	0.87[CEU][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap]
rs660888	0.84[TSI][hapmap]
rs676311	0.85[TSI][hapmap]
rs6921689	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7766674	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs947223	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1796319	chr6:81034505-81058025	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1341279	ME1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81005200-81056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81027000-81044600	Weak transcription	Aorta	Aorta
3	chr6:81029400-81038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:81029400-81079600	Weak transcription	HSMM	muscle
5	chr6:81033800-81070200	Weak transcription	Left Ventricle	heart
6	chr6:81034000-81039200	Weak transcription	Esophagus	oesophagus
7	chr6:81035200-81039200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:81036600-81041000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:81036800-81044600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:81037200-81041000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:81037200-81041200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:81037200-81041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:81037400-81038600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:81037400-81039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:81037400-81044800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:81037600-81040600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:81037600-81042000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:81037600-81044400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:81037800-81039800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:81038200-81038600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:81038200-81038800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:81038200-81039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:81038200-81039200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:81038200-81039200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:81038200-81039200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:81038200-81039200	Weak transcription	Brain Substantia Nigra	brain
27	chr6:81038200-81040200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:81038200-81041400	Weak transcription	Brain Anterior Caudate	brain
29	chr6:81038200-81044800	Weak transcription	Fetal Lung	lung
30	chr6:81038400-81038600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:81038400-81038800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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