Variant report

Variant	rs2124363
Chromosome Location	chr15:93053681-93053682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12909240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1455782	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1455783	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28803010	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777998	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2124363	ABHD2	cis	cerebellum	SCAN
rs2124363	ZNF774	cis	parietal	SCAN
rs2124363	UNC45A	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93047800-93054200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93049200-93055800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:93051200-93054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:93052800-93054400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:93052800-93054600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr15:93052800-93054800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:93053000-93053800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:93053000-93054400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr15:93053000-93054600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:93053200-93053800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:93053200-93054000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:93053200-93054200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:93053400-93053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:93053400-93054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:93053400-93054000	Enhancers	HMEC	breast
16	chr15:93053400-93054000	Enhancers	NHEK	skin
17	chr15:93053400-93054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:93053400-93054200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:93053400-93054200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:93053400-93054200	Enhancers	HSMM	muscle
21	chr15:93053400-93054200	Enhancers	NH-A	brain
22	chr15:93053400-93054400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:93053600-93053800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr15:93053600-93053800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:93053600-93054000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:93053600-93054000	Enhancers	HSMMtube	muscle
27	chr15:93053600-93054200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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