Variant report

Variant	rs328114
Chromosome Location	chr18:44273786-44273787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1710431	0.85[ASN][1000 genomes]
rs328115	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs328116	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328134	0.86[ASN][1000 genomes]
rs371346	0.91[ASN][1000 genomes]
rs430361	0.91[ASN][1000 genomes]
rs433296	0.91[ASN][1000 genomes]
rs447137	0.91[ASN][1000 genomes]
rs645631	0.91[ASN][1000 genomes]
rs9950834	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs328114	KIAA1632	cis	parietal	SCAN
rs328114	SETBP1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44256600-44274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:44258200-44280000	Weak transcription	HSMMtube	muscle
4	chr18:44260800-44286600	Weak transcription	Brain Germinal Matrix	brain
5	chr18:44269200-44276000	Weak transcription	Fetal Muscle Leg	muscle
6	chr18:44270200-44273800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:44270600-44273800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr18:44272400-44275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:44273200-44288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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