Variant report

Variant	rs4407894
Chromosome Location	chr8:19933896-19933897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11984910	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985911	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28526159	0.83[AMR][1000 genomes]
rs4585763	0.81[ASN][1000 genomes]
rs6586891	0.81[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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4407894	INTS10	cis	cerebellum	SCAN
rs4407894	NUDT18	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19931400-19935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19931600-19936800	Enhancers	Placenta	Placenta
3	chr8:19931800-19934400	Enhancers	Adipose Nuclei	Adipose
4	chr8:19932000-19934000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:19932200-19936600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:19932400-19937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:19932800-19934400	Enhancers	Left Ventricle	heart
8	chr8:19933200-19936200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:19933400-19934400	Enhancers	Right Ventricle	heart
10	chr8:19933400-19934800	Enhancers	Psoas Muscle	Psoas
11	chr8:19933600-19934400	Enhancers	Fetal Stomach	stomach
12	chr8:19933600-19934400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:19933600-19934600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:19933800-19934200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:19933800-19934200	Enhancers	Fetal Lung	lung
16	chr8:19933800-19935600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:19933800-19936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:19933800-19936600	Weak transcription	Lung	lung
19	chr8:19933800-19936600	Weak transcription	Right Atrium	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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