Variant report

Variant	rs4657614
Chromosome Location	chr1:166899261-166899262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166897470..166899365-chr1:166901895..166904377,3	K562	blood:
2	chr1:166897470..166899679-chr1:166901895..166904408,3	K562	blood:
3	chr1:166898189..166900017-chr1:166904554..166906542,2	K562	blood:
4	chr1:166808651..166811141-chr1:166899000..166901939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1053407	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11582566	0.92[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs12117020	0.93[GIH][hapmap]
rs2013526	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2014854	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072741	0.81[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2075981	0.82[TSI][hapmap]
rs2075982	0.81[CEU][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2312238	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6427038	0.81[EUR][1000 genomes]
rs6427046	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6688277	0.86[EUR][1000 genomes]
rs6690192	0.84[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7552562	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs926266	0.87[GIH][hapmap];0.85[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4657614	MAEL	cis	lymphoblastoid	seeQTL
rs4657614	MAEL	cis	Esophagus Muscularis	GTEx
rs4657614	MAEL	cis	parietal	SCAN
rs4657614	GPR161	cis	cerebellum	SCAN
rs4657614	TBX19	cis	cerebellum	SCAN
rs4657614	UHMK1	cis	cerebellum	SCAN
rs4657614	ANKRD36BP1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166880800-166909600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:166882200-166899600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:166890400-166906600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:166890800-166904400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:166890800-166907400	Weak transcription	Brain Angular Gyrus	brain
6	chr1:166890800-166907600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:166891000-166916400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:166892000-166913800	Weak transcription	Thymus	Thymus
9	chr1:166892800-166904600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:166895000-166903200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:166895200-166900200	Weak transcription	GM12878-XiMat	blood
12	chr1:166895600-166903800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:166895800-166900800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:166895800-166903800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:166895800-166906600	Weak transcription	Right Ventricle	heart
16	chr1:166896200-166904600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:166896400-166904200	Weak transcription	Dnd41	blood
18	chr1:166896400-166910400	Weak transcription	Left Ventricle	heart
19	chr1:166897000-166901600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:166897000-166905600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:166897600-166906000	Weak transcription	Fetal Heart	heart
22	chr1:166897800-166900800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:166897800-166902600	Weak transcription	HSMM	muscle
24	chr1:166898600-166902400	Weak transcription	HSMMtube	muscle
25	chr1:166899200-166899600	Enhancers	Brain Germinal Matrix	brain

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