Variant report

Variant	rs3815966
Chromosome Location	chr15:34126865-34126866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12901413	0.94[EUR][1000 genomes]
rs12904990	0.97[EUR][1000 genomes]
rs12912948	0.88[EUR][1000 genomes]
rs1429751	0.80[CEU][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap]
rs8038529	0.96[EUR][1000 genomes]

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	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv568921	chr15:34046635-34247622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3815966	ACTC1	cis	cerebellum	SCAN
rs3815966	MTMR10	cis	cerebellum	SCAN
rs3815966	OCA2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34090600-34151800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:34091800-34151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:34107600-34129000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:34114400-34149400	Weak transcription	Fetal Stomach	stomach
5	chr15:34117600-34130000	Weak transcription	Brain Angular Gyrus	brain
6	chr15:34119400-34128800	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:34119600-34129000	Weak transcription	Aorta	Aorta
8	chr15:34119600-34129000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:34119600-34137200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:34121200-34129000	Weak transcription	Brain Anterior Caudate	brain
11	chr15:34121200-34129400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:34121400-34158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:34121600-34128800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:34123200-34129000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:34124400-34146800	Weak transcription	Brain Substantia Nigra	brain
16	chr15:34124400-34148600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:34124400-34151200	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:34126200-34128200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:34126400-34127200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:34126600-34127400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr15:34126600-34127600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:34126600-34127800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:34126600-34128000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr15:34126600-34128200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:34126600-34128200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:34126800-34127000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr15:34126800-34127200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr15:34126800-34127400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr15:34126800-34128000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:34126800-34128200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:34126800-34128200	Enhancers	H1 Cell Line	embryonic stem cell

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