Variant report

Variant	rs55786211
Chromosome Location	chr15:34141194-34141195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:34141171-34141304	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34094725..34097105-chr15:34140341..34142261,2	K562	blood:

Variant related genes	Relation type
RYR3	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10519889	0.92[EUR][1000 genomes]
rs11629862	0.92[EUR][1000 genomes]
rs11853646	0.86[EUR][1000 genomes]
rs11855356	0.92[EUR][1000 genomes]
rs16958202	0.92[EUR][1000 genomes]
rs16958222	0.87[EUR][1000 genomes]
rs16958228	0.87[EUR][1000 genomes]
rs16958235	0.87[EUR][1000 genomes]
rs16958242	0.87[EUR][1000 genomes]
rs16958247	0.87[EUR][1000 genomes]
rs16958281	0.82[EUR][1000 genomes]
rs41279232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55688824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726623	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55846435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55980511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56090340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56163067	0.80[EUR][1000 genomes]
rs56220027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56258848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57308544	0.92[EUR][1000 genomes]
rs60933918	0.92[EUR][1000 genomes]
rs61027076	0.87[EUR][1000 genomes]
rs6495271	0.82[EUR][1000 genomes]
rs6495305	0.90[EUR][1000 genomes]
rs7165072	0.92[EUR][1000 genomes]
rs7170693	0.92[EUR][1000 genomes]
rs7176081	0.92[EUR][1000 genomes]
rs7177269	0.92[EUR][1000 genomes]
rs7177889	0.92[EUR][1000 genomes]
rs73372076	1.00[EUR][1000 genomes]
rs73375714	0.87[EUR][1000 genomes]
rs73375717	0.87[EUR][1000 genomes]
rs9302282	0.92[EUR][1000 genomes]
rs9302283	0.92[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55786211	GOLGA8A,GOLGA8B	cis	brain	BrainEAC

Chromatin state (count:35 , 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	chr15:34114400-34149400	Weak transcription	Fetal Stomach	stomach
4	chr15:34121400-34158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:34124400-34146800	Weak transcription	Brain Substantia Nigra	brain
6	chr15:34124400-34148600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:34124400-34151200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:34127800-34147800	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:34128200-34144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:34129800-34151600	Weak transcription	Fetal Brain Female	brain
11	chr15:34130000-34151000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:34130800-34151200	Weak transcription	Aorta	Aorta
13	chr15:34130800-34158600	Weak transcription	Brain Germinal Matrix	brain
14	chr15:34131200-34146800	Weak transcription	Brain Anterior Caudate	brain
15	chr15:34132200-34146400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:34134600-34141400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:34135000-34141400	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:34137400-34143400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:34137400-34144400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:34137400-34164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:34137600-34143600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:34138000-34148200	Weak transcription	Spleen	Spleen
23	chr15:34138600-34146800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:34138600-34151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:34138800-34145000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr15:34139200-34141400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:34139200-34143800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:34139600-34143400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:34139600-34143800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:34139600-34144800	Weak transcription	HSMMtube	muscle
31	chr15:34139800-34141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:34139800-34156400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:34139800-34164200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:34140200-34143600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:34140400-34144600	Weak transcription	Placenta	Placenta

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