Variant report

Variant	rs11850957
Chromosome Location	chr14:25479542-25479543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10131274	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10134818	0.95[ASN][1000 genomes]
rs10137405	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10151968	0.89[ASW][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1062230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625143	0.92[ASN][1000 genomes]
rs17109371	0.87[GIH][hapmap]
rs17109462	0.82[GIH][hapmap]
rs28722832	0.89[AFR][1000 genomes]
rs7147250	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7147314	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7153837	0.83[GIH][hapmap]
rs7157481	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7158164	0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73595340	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73595341	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8009099	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Subcutaneous adipose tissue	22589738	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11850957	STXBP6	cis	parietal	SCAN
rs11850957	TEP1	cis	parietal	SCAN
rs11850957	C14orf21	cis	brain	BrainEAC
rs11850957	PRMT5	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25475200-25480800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:25476400-25485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:25477200-25480200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:25477200-25483400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:25477600-25480000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:25477600-25480000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:25477800-25479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:25477800-25479800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:25477800-25480000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:25477800-25480000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:25477800-25480000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:25477800-25480000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:25478200-25480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:25478400-25480000	Enhancers	Left Ventricle	heart
15	chr14:25478400-25480000	Enhancers	HepG2	liver
16	chr14:25478600-25480000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:25478600-25480000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:25478600-25480000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:25478600-25480000	Enhancers	Right Atrium	heart
20	chr14:25478600-25480800	Enhancers	Fetal Intestine Large	intestine
21	chr14:25478600-25480800	Enhancers	NHEK	skin
22	chr14:25478800-25479600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:25478800-25479600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:25478800-25479600	Flanking Active TSS	Right Ventricle	heart
25	chr14:25478800-25479600	Enhancers	Stomach Mucosa	stomach
26	chr14:25478800-25479800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:25478800-25480000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:25478800-25480000	Enhancers	Brain Angular Gyrus	brain
29	chr14:25478800-25480000	Enhancers	Fetal Muscle Leg	muscle
30	chr14:25478800-25480000	Enhancers	NHLF	lung
31	chr14:25478800-25480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:25478800-25480800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr14:25478800-25481000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:25478800-25481000	Enhancers	Fetal Intestine Small	intestine
35	chr14:25479000-25479600	Enhancers	NHDF-Ad	bronchial
36	chr14:25479000-25480600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:25479000-25480800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:25479000-25480800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:25479200-25479600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:25479200-25479800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:25479200-25479800	Enhancers	NH-A	brain
42	chr14:25479200-25480000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:25479200-25480200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:25479200-25480800	Enhancers	Fetal Heart	heart
45	chr14:25479200-25488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:25479400-25479600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:25479400-25479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:25479400-25479600	Active TSS	A549	lung
49	chr14:25479400-25479600	Flanking Active TSS	HSMMtube	muscle
50	chr14:25479400-25480000	Enhancers	Muscle Satellite Cultured Cells	--

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