Variant report

Variant	rs12148265
Chromosome Location	chr15:93066974-93066975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12917366	1.00[CHB][hapmap]
rs1496721	1.00[ASN][1000 genomes]
rs16947186	1.00[CHB][hapmap]
rs206350	1.00[CHB][hapmap]
rs2132615	1.00[CHB][hapmap]
rs2387893	0.83[ASN][1000 genomes]
rs285723	1.00[CHB][hapmap]
rs285737	1.00[CHB][hapmap]
rs285743	1.00[CHB][hapmap]
rs285764	1.00[CHB][hapmap]
rs285766	1.00[CHB][hapmap]
rs285767	1.00[CHB][hapmap]
rs34289565	0.83[ASN][1000 genomes]
rs35166773	0.88[EUR][1000 genomes]
rs35357183	0.83[ASN][1000 genomes]
rs62021728	1.00[ASN][1000 genomes]
rs99521	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1049561	chr15:92758434-93097965	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
5	esv2751542	chr15:93053681-93091815	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12148265	C15orf38	cis	cerebellum	SCAN
rs12148265	TTLL13	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93063200-93068000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:93063400-93067200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:93064200-93067400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:93065200-93067400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:93065200-93067400	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:93065200-93067600	Weak transcription	HSMMtube	muscle
7	chr15:93065200-93067800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:93065200-93070600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:93065200-93070600	Weak transcription	Right Ventricle	heart
10	chr15:93065400-93067000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:93065400-93067600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:93065600-93067600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:93065600-93067600	Weak transcription	HSMM	muscle
14	chr15:93065600-93068200	Weak transcription	Fetal Lung	lung
15	chr15:93065600-93070600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:93066400-93067600	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:93066400-93069800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:93066600-93068000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr15:93066800-93067800	Weak transcription	Brain Germinal Matrix	brain
20	chr15:93066800-93069000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:93066800-93069400	Enhancers	Skeletal Muscle Female	skeletal muscle

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