Variant report

Variant	rs9380610
Chromosome Location	chr6:36805885-36805886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2116447	0.85[CEU][hapmap]
rs236357	0.82[JPT][hapmap]
rs236385	0.81[CEU][hapmap]
rs236386	0.81[CEU][hapmap]
rs236389	0.81[CEU][hapmap]
rs3778017	0.82[CEU][hapmap];0.81[GIH][hapmap]
rs9380618	0.82[CEU][hapmap];0.81[GIH][hapmap]
rs9470426	0.82[CEU][hapmap]

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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5262	chr6:36799329-36826210	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9380610	PPIL1	Cis_1M	lymphoblastoid	RTeQTL
rs9380610	GLP1R	cis	parietal	SCAN
rs9380610	LRFN2	cis	cerebellum	SCAN
rs9380610	PNPLA1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36798600-36806800	Weak transcription	Ovary	ovary
2	chr6:36802200-36806400	Enhancers	Fetal Heart	heart
3	chr6:36803000-36806000	Weak transcription	Left Ventricle	heart
4	chr6:36803000-36806400	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:36803200-36806000	Weak transcription	Fetal Brain Female	brain
6	chr6:36803200-36806400	Weak transcription	Fetal Brain Male	brain
7	chr6:36803200-36806600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:36803400-36806200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:36803800-36806600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr6:36804000-36807000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:36804000-36808200	Active TSS	Brain Anterior Caudate	brain
12	chr6:36804600-36806000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr6:36805200-36807200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr6:36805400-36806000	Enhancers	Right Ventricle	heart
15	chr6:36805400-36806200	Enhancers	HUVEC	blood vessel
16	chr6:36805600-36806800	Active TSS	Right Atrium	heart
17	chr6:36805800-36806200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr6:36805800-36807000	Active TSS	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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