Variant report

Variant	rs4799641
Chromosome Location	chr18:29821590-29821591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11081752	0.91[ASN][1000 genomes]
rs1561815	0.81[ASN][1000 genomes]
rs1561816	0.81[ASN][1000 genomes]
rs16962815	0.81[ASN][1000 genomes]
rs16962818	0.81[ASN][1000 genomes]
rs4799330	0.82[ASN][1000 genomes]
rs616114	0.86[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs625188	0.92[ASN][1000 genomes]
rs673408	0.86[CHB][hapmap];0.80[CHD][hapmap];0.86[ASN][1000 genomes]
rs677887	0.91[ASN][1000 genomes]
rs679163	0.95[ASN][1000 genomes]
rs680321	0.86[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7233927	0.81[ASN][1000 genomes]
rs9953120	0.81[ASN][1000 genomes]
rs9965114	0.93[ASN][1000 genomes]

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	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4799641	KLHL14	cis	parietal	SCAN
rs4799641	DSG1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29817600-29822200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr18:29819000-29821600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:29819000-29821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr18:29819000-29823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:29819000-29823400	Weak transcription	Aorta	Aorta
6	chr18:29820800-29821600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:29820800-29822800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:29821000-29821800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr18:29821000-29822200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr18:29821200-29822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:29821200-29822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:29821200-29824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:29821200-29832400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:29821400-29822000	Enhancers	HUES64 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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