Variant report

Variant	rs10131614
Chromosome Location	chr14:67363542-67363543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10047902	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10130604	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10132565	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133107	0.86[EUR][1000 genomes]
rs10136026	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136043	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136344	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136622	0.85[EUR][1000 genomes]
rs10142059	0.86[EUR][1000 genomes]
rs10144915	0.86[EUR][1000 genomes]
rs10148117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10151107	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11158652	0.86[EUR][1000 genomes]
rs1138802	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12588821	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13379476	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1546940	0.86[EUR][1000 genomes]
rs1950281	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1950282	0.86[EUR][1000 genomes]
rs1950689	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1955604	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1955606	0.83[EUR][1000 genomes]
rs2064489	0.85[EUR][1000 genomes]
rs2144909	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28444104	0.85[EUR][1000 genomes]
rs28539317	0.86[EUR][1000 genomes]
rs28624837	0.80[AMR][1000 genomes]
rs28817965	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3784074	0.84[AMR][1000 genomes]
rs4141702	0.81[AMR][1000 genomes]
rs56189117	0.81[AMR][1000 genomes]
rs6573726	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6573728	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573734	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573736	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs68178754	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7142669	0.80[AMR][1000 genomes]
rs7145295	0.85[EUR][1000 genomes]
rs7145718	0.84[AMR][1000 genomes]
rs7145917	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7147570	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7149905	0.85[EUR][1000 genomes]
rs7152422	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7156655	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7157126	0.86[EUR][1000 genomes]
rs723432	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs728647	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006669	0.81[AMR][1000 genomes]
rs8008773	0.80[AMR][1000 genomes]
rs8012063	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8012660	0.84[AMR][1000 genomes]
rs8013943	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016186	0.84[AMR][1000 genomes]
rs8018750	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8018920	0.84[AMR][1000 genomes]
rs8021098	0.84[EUR][1000 genomes]
rs8022328	0.80[AMR][1000 genomes]
rs8022657	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323483	0.80[AMR][1000 genomes]
rs9323488	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902044	chr14:67217091-67364763	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv902046	chr14:67219817-67364763	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv902054	chr14:67253035-67364763	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10131614	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs10131614	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67356000-67364400	Weak transcription	Liver	Liver
2	chr14:67356000-67371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:67356200-67377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:67357600-67369800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:67358400-67363600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:67360200-67372800	Weak transcription	Pancreas	Pancrea
7	chr14:67360200-67382800	Weak transcription	Left Ventricle	heart

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