Variant report

Variant	rs4240914
Chromosome Location	chr1:10597217-10597218
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10157111	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs10157119	0.86[EUR][1000 genomes]
rs10746495	0.84[EUR][1000 genomes]
rs10779739	0.86[EUR][1000 genomes]
rs10779744	0.90[JPT][hapmap]
rs10864461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10864463	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs10864465	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11121584	0.86[EUR][1000 genomes]
rs11121585	0.83[EUR][1000 genomes]
rs11121588	0.84[EUR][1000 genomes]
rs11121589	0.84[EUR][1000 genomes]
rs11121594	0.90[JPT][hapmap]
rs11121596	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121597	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12033275	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12128630	0.84[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs12129678	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403130	0.84[EUR][1000 genomes]
rs12565494	0.90[JPT][hapmap]
rs2039175	0.81[EUR][1000 genomes]
rs2039176	0.81[EUR][1000 genomes]
rs2086650	0.91[JPT][hapmap]
rs2183377	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2480771	0.86[EUR][1000 genomes]
rs2480772	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs2480773	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs2480775	0.91[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs2480780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2480781	0.91[JPT][hapmap];0.87[EUR][1000 genomes]
rs2506878	0.83[CEU][hapmap]
rs2506897	0.89[EUR][1000 genomes]
rs2506898	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs2506900	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2988398	0.87[EUR][1000 genomes]
rs2988399	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35612158	0.83[EUR][1000 genomes]
rs4240915	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs4845936	0.84[EUR][1000 genomes]
rs4846230	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs4846231	0.84[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs4846232	0.85[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs4846233	0.83[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs58788814	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61192982	0.82[EUR][1000 genomes]
rs61777207	0.85[EUR][1000 genomes]
rs61777208	0.81[EUR][1000 genomes]
rs6540938	0.90[JPT][hapmap]
rs6658073	0.84[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs6663688	0.91[JPT][hapmap]
rs6663898	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs6681221	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6687502	0.90[JPT][hapmap]
rs6700023	0.86[EUR][1000 genomes]
rs710130	0.90[JPT][hapmap]
rs72641424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72641427	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747124	0.91[JPT][hapmap]
rs7512467	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536149	0.97[ASN][1000 genomes]
rs7545184	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs944191	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs9660006	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4240914	PEX14	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10572200-10598600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:10584800-10603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:10585200-10603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:10585200-10603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:10588400-10598200	Weak transcription	Pancreas	Pancrea
8	chr1:10588800-10599200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:10589000-10600000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:10589200-10598600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
12	chr1:10590200-10602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:10590200-10605200	Weak transcription	NHDF-Ad	bronchial
14	chr1:10590600-10599400	Weak transcription	GM12878-XiMat	blood
15	chr1:10590800-10598600	Weak transcription	Right Atrium	heart
16	chr1:10590800-10599800	Weak transcription	Right Ventricle	heart
17	chr1:10590800-10601000	Weak transcription	A549	lung
18	chr1:10591000-10600200	Weak transcription	HUVEC	blood vessel
19	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
20	chr1:10591200-10597400	Weak transcription	Fetal Thymus	thymus
21	chr1:10591200-10599200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:10591200-10599200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:10591200-10601000	Weak transcription	Placenta	Placenta
24	chr1:10591200-10601400	Weak transcription	Colonic Mucosa	Colon
25	chr1:10591400-10599600	Weak transcription	Fetal Kidney	kidney
26	chr1:10591400-10599600	Weak transcription	Ovary	ovary
27	chr1:10591400-10609000	Weak transcription	Small Intestine	intestine
28	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:10591600-10599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:10592000-10598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:10592000-10598600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:10592000-10599200	Weak transcription	HSMM	muscle
34	chr1:10592000-10599600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:10592200-10599200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:10592200-10599200	Weak transcription	NH-A	brain
37	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:10592400-10598600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:10592600-10597600	Weak transcription	Psoas Muscle	Psoas
40	chr1:10592600-10598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:10592600-10598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:10592600-10599200	Weak transcription	Fetal Lung	lung
43	chr1:10592800-10598000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:10592800-10599800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:10593000-10598000	Weak transcription	Fetal Heart	heart
46	chr1:10593000-10598200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:10593000-10598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:10593000-10599200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:10593000-10599400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:10593000-10599800	Weak transcription	Brain Angular Gyrus	brain

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