Variant report

Variant	rs4383110
Chromosome Location	chr15:34036470-34036471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11072644	0.85[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11638307	0.86[GIH][hapmap];0.89[TSI][hapmap]
rs16957975	0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2278317	0.85[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2288604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288606	0.89[GIH][hapmap];0.89[TSI][hapmap]
rs4779642	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4780170	0.86[GIH][hapmap];0.89[TSI][hapmap]
rs4780173	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62012616	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495239	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs8036740	0.86[GIH][hapmap];0.89[TSI][hapmap]
rs8037593	0.89[GIH][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv34037	chr15:33732616-34049083	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4383110	NDNL2	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34030400-34038000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:34030600-34038200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:34030600-34038200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:34030800-34038200	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:34030800-34040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:34032400-34041000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:34034600-34048600	Weak transcription	Aorta	Aorta
8	chr15:34034800-34038000	Weak transcription	Brain Substantia Nigra	brain
9	chr15:34034800-34042200	Weak transcription	Brain Germinal Matrix	brain
10	chr15:34034800-34050400	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:34035200-34038400	Weak transcription	Brain Anterior Caudate	brain
12	chr15:34035400-34042200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:34035400-34044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:34035600-34036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:34035600-34036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:34035600-34040200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:34035600-34048600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:34035600-34049000	Weak transcription	Fetal Stomach	stomach
19	chr15:34035800-34037400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr15:34035800-34040000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:34035800-34040000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:34036000-34038600	Strong transcription	Fetal Muscle Leg	muscle

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