Variant report

Variant	rs11847576
Chromosome Location	chr14:25454556-25454557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10132357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10138510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11628502	0.94[ASN][1000 genomes]
rs11849185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851504	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17109380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109457	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109515	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs1952491	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1952499	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2077562	0.82[CEU][hapmap]
rs2094659	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28625718	0.94[ASN][1000 genomes]
rs28722832	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35106416	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57426267	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57614343	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58424382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58590969	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152812	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153837	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154613	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8004566	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008618	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009099	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8019222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:25430000-25465800	Weak transcription	Lung	lung
3	chr14:25436600-25455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:25444200-25454600	Weak transcription	Right Atrium	heart
5	chr14:25445600-25454600	Weak transcription	Brain Anterior Caudate	brain
6	chr14:25451800-25454600	Weak transcription	Psoas Muscle	Psoas
7	chr14:25451800-25456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:25451800-25470200	Weak transcription	HSMMtube	muscle
9	chr14:25452200-25459000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:25452400-25455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:25452400-25455800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:25452600-25456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:25452800-25454800	Weak transcription	HepG2	liver
14	chr14:25452800-25470000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:25453200-25455000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:25453200-25456200	Enhancers	Small Intestine	intestine
17	chr14:25453400-25456000	Enhancers	Fetal Intestine Small	intestine
18	chr14:25453600-25455000	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:25453600-25455800	Enhancers	Fetal Intestine Large	intestine
20	chr14:25453600-25456400	Enhancers	Duodenum Mucosa	Duodenum
21	chr14:25453800-25454800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:25453800-25455000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr14:25453800-25455000	Enhancers	HUVEC	blood vessel
24	chr14:25454000-25454800	Enhancers	Colonic Mucosa	Colon
25	chr14:25454000-25455200	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:25454000-25455400	Enhancers	Colon Smooth Muscle	Colon
27	chr14:25454000-25455800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr14:25454000-25455800	Enhancers	Brain Substantia Nigra	brain
29	chr14:25454000-25455800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:25454000-25456000	Enhancers	Fetal Lung	lung
31	chr14:25454200-25454600	ZNF genes & repeats	Fetal Brain Male	brain
32	chr14:25454200-25454800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:25454200-25454800	Enhancers	Fetal Kidney	kidney
34	chr14:25454200-25455000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr14:25454200-25455400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:25454200-25455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:25454200-25455800	Enhancers	Adipose Nuclei	Adipose
38	chr14:25454200-25455800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:25454200-25455800	Enhancers	Fetal Muscle Leg	muscle
40	chr14:25454200-25455800	Enhancers	Right Ventricle	heart
41	chr14:25454200-25456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:25454200-25456000	Enhancers	Fetal Heart	heart
43	chr14:25454200-25456200	Enhancers	Stomach Mucosa	stomach
44	chr14:25454400-25454600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:25454400-25454600	Enhancers	Brain Angular Gyrus	brain
46	chr14:25454400-25454800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:25454400-25454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:25454400-25454800	Enhancers	Pancreas	Pancrea
49	chr14:25454400-25454800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:25454400-25454800	Flanking Active TSS	K562	blood

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