Variant report

Variant	rs854334
Chromosome Location	chr14:25329433-25329434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10483289	0.83[CEU][hapmap]
rs1241587	0.83[CEU][hapmap]
rs1241591	0.82[CEU][hapmap]
rs1241595	0.83[CEU][hapmap]
rs1241596	0.83[CEU][hapmap]
rs1241597	0.83[CEU][hapmap]
rs1241599	0.83[CEU][hapmap]
rs1241600	0.83[CEU][hapmap]
rs1241601	0.83[CEU][hapmap]
rs1241602	0.83[CEU][hapmap]
rs1241604	0.83[CEU][hapmap]
rs1241606	0.87[CEU][hapmap]
rs1241607	0.83[CEU][hapmap]
rs1241611	0.83[CEU][hapmap]
rs1241614	0.84[CEU][hapmap]
rs1241646	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1241649	0.82[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs12878320	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879748	0.83[CEU][hapmap]
rs12879796	0.83[CEU][hapmap]
rs12880290	0.82[CEU][hapmap]
rs12884685	0.83[CEU][hapmap]
rs12889256	0.83[CEU][hapmap]
rs12889353	0.83[CEU][hapmap]
rs12889497	0.82[CEU][hapmap]
rs12894268	0.83[CEU][hapmap]
rs12895085	0.83[CEU][hapmap]
rs12895300	0.82[CEU][hapmap]
rs1841611	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2297061	0.82[CEU][hapmap]
rs8005503	0.83[CEU][hapmap]
rs8007588	0.86[MEX][hapmap]
rs8018496	0.93[MEX][hapmap]
rs854320	0.84[CHB][hapmap];0.86[ASN][1000 genomes]
rs854325	0.82[CEU][hapmap]
rs854329	1.00[CEU][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs854333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854337	0.89[ASW][hapmap];0.87[CEU][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs854338	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs854334	DHRS2	cis	parietal	SCAN
rs854334	HEBP2	trans	lymphoblastoid	seeQTL
rs854334	SLC7A8	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25314600-25333600	Weak transcription	Lung	lung
2	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
3	chr14:25316000-25330400	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:25318200-25330200	Weak transcription	Fetal Heart	heart
6	chr14:25319000-25330400	Weak transcription	Adipose Nuclei	Adipose
7	chr14:25319600-25344600	Weak transcription	NHDF-Ad	bronchial
8	chr14:25320000-25330200	Weak transcription	HSMMtube	muscle
9	chr14:25321400-25330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:25321600-25333600	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:25322000-25330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:25323400-25330200	Weak transcription	Fetal Intestine Large	intestine
13	chr14:25323600-25330200	Weak transcription	Fetal Intestine Small	intestine
14	chr14:25323600-25333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:25324000-25330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:25324000-25330600	Weak transcription	Pancreas	Pancrea
17	chr14:25324400-25330800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:25324800-25330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:25325200-25329600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:25325400-25330200	Weak transcription	HepG2	liver
21	chr14:25325600-25329600	Weak transcription	HSMM	muscle
22	chr14:25326400-25330400	Weak transcription	Stomach Mucosa	stomach
23	chr14:25326400-25343600	Weak transcription	Gastric	stomach
24	chr14:25326600-25330200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:25327600-25330200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:25328000-25330600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:25328400-25330200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:25328400-25330400	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:25328400-25331200	Enhancers	Right Ventricle	heart
30	chr14:25328600-25330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:25328600-25330000	Weak transcription	NH-A	brain
32	chr14:25328600-25330600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:25328800-25330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:25329000-25330400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:25329200-25330200	Weak transcription	Fetal Lung	lung
36	chr14:25329200-25330600	Weak transcription	Left Ventricle	heart
37	chr14:25329200-25340000	Weak transcription	Brain Anterior Caudate	brain
38	chr14:25329200-25341800	Weak transcription	Right Atrium	heart

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