Variant report

Variant	rs2018919
Chromosome Location	chr14:79977893-79977894
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57886744	1.00[ASN][1000 genomes]
rs59206596	0.96[ASN][1000 genomes]
rs60526371	0.94[ASN][1000 genomes]
rs73339494	0.82[ASN][1000 genomes]
rs73339495	0.84[ASN][1000 genomes]
rs73339499	0.82[ASN][1000 genomes]
rs73339502	0.82[ASN][1000 genomes]
rs73341406	0.92[ASN][1000 genomes]
rs73341410	0.91[ASN][1000 genomes]
rs73341413	0.92[ASN][1000 genomes]
rs73341444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73341451	0.96[ASN][1000 genomes]
rs73341454	0.83[ASN][1000 genomes]
rs8014580	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1811223	chr14:79967761-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1805690	chr14:79971835-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1806121	chr14:79971835-79981954	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1807999	chr14:79971835-79981954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1809543	chr14:79971835-79981954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1812098	chr14:79971835-79981954	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79975000-79982200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79976600-79978000	Enhancers	NHLF	lung
3	chr14:79977200-79978000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:79977200-79978000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:79977200-79978000	Enhancers	HSMMtube	muscle
6	chr14:79977200-79981200	Weak transcription	Osteobl	bone
7	chr14:79977400-79980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:79977400-79981200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:79977600-79979200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:79977600-79980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:79977600-79980800	Weak transcription	NHEK	skin
12	chr14:79977600-79981000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:79977800-79979200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:79977800-79979600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:79977800-79980600	Weak transcription	NH-A	brain
16	chr14:79977800-79980800	Weak transcription	HSMM	muscle
17	chr14:79977800-79981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:79977800-79981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:79977800-79981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:79977800-79981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:79977800-79982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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