Variant report

Variant	rs2196447
Chromosome Location	chr14:79950488-79950489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10083466	0.85[JPT][hapmap]
rs10133502	0.85[JPT][hapmap]
rs10144362	0.82[ASN][1000 genomes]
rs10483923	0.86[JPT][hapmap]
rs11845632	0.85[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11850075	0.84[ASN][1000 genomes]
rs12588083	0.86[JPT][hapmap]
rs12884436	0.90[JPT][hapmap]
rs12885724	0.86[JPT][hapmap]
rs17109313	0.82[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2371101	0.86[JPT][hapmap]
rs4903863	0.86[JPT][hapmap]
rs4903864	0.86[JPT][hapmap]
rs56111431	0.84[ASN][1000 genomes]
rs7146075	0.86[JPT][hapmap]
rs7147705	0.86[JPT][hapmap]
rs7151972	0.82[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2196447	LTBP2	cis	cerebellum	SCAN
rs2196447	ANGEL1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79949000-79950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr14:79949000-79950600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:79949000-79950600	Enhancers	Brain Angular Gyrus	brain
4	chr14:79949200-79950600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:79949200-79950800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:79949200-79951000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:79949200-79951000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:79949200-79951000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:79949200-79951200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:79949600-79950600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:79949600-79950600	Enhancers	Brain Substantia Nigra	brain
12	chr14:79949600-79951200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:79949800-79950600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:79949800-79950600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:79949800-79950600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:79949800-79950600	Enhancers	NH-A	brain
17	chr14:79949800-79951000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:79950000-79950600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:79950000-79950600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:79950000-79950600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:79950000-79950600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:79950000-79950600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:79950000-79950800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr14:79950000-79950800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:79950000-79950800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:79950000-79951000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr14:79950000-79951000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:79950000-79951000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:79950000-79952000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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