Variant report

Variant	rs2038700
Chromosome Location	chr14:25461989-25461990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10143606	0.83[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10147992	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs11159034	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2004925	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2332462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574126	0.82[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7141943	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143179	0.80[AMR][1000 genomes]
rs8009162	0.80[AMR][1000 genomes]
rs8011948	0.80[AMR][1000 genomes]
rs8017228	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs873102	0.81[ASW][hapmap]
rs912304	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs9323580	0.80[AMR][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	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25430000-25465800	Weak transcription	Lung	lung
2	chr14:25451800-25470200	Weak transcription	HSMMtube	muscle
3	chr14:25452800-25470000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:25454800-25463000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:25455000-25462400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:25455000-25470200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:25455800-25462400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:25455800-25463000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:25455800-25464400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:25456000-25462200	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:25456000-25462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:25456000-25472800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:25456400-25466200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:25456400-25472800	Weak transcription	Brain Angular Gyrus	brain
15	chr14:25457200-25466200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:25458000-25470200	Weak transcription	HepG2	liver
17	chr14:25459400-25462800	Weak transcription	HSMM	muscle
18	chr14:25459400-25466400	Weak transcription	Fetal Intestine Large	intestine
19	chr14:25459400-25468400	Weak transcription	Fetal Lung	lung
20	chr14:25459400-25470000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:25459600-25462400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:25459600-25462800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:25459600-25470000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:25459600-25470000	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:25459800-25466400	Weak transcription	Fetal Intestine Small	intestine
26	chr14:25459800-25470000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:25460000-25463600	Enhancers	Fetal Heart	heart
28	chr14:25460200-25462800	Weak transcription	Placenta	Placenta
29	chr14:25461000-25463400	Enhancers	Left Ventricle	heart
30	chr14:25461400-25463400	Enhancers	Brain Anterior Caudate	brain
31	chr14:25461400-25467400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:25461400-25473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:25461600-25462600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:25461600-25472800	Weak transcription	Pancreas	Pancrea
35	chr14:25461600-25472800	Weak transcription	Right Atrium	heart
36	chr14:25461800-25462200	Weak transcription	Right Ventricle	heart

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