Variant report

Variant	rs4799323
Chromosome Location	chr18:29597035-29597036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000238982	Chromatin interaction
ENSG00000153339	Chromatin interaction
ENSG00000263823	Chromatin interaction
ENSG00000134758	Chromatin interaction
ENSG00000265008	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12457986	0.90[ASN][1000 genomes]
rs12458003	0.90[ASN][1000 genomes]
rs4799322	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4799623	0.93[ASN][1000 genomes]
rs66467030	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7230885	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv524199	chr18:29595164-29598809	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29587000-29598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:29588600-29598200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:29590600-29597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:29593600-29598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:29595800-29597400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr18:29595800-29597600	Enhancers	Primary T cells from cord blood	blood
7	chr18:29595800-29597800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr18:29595800-29598000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:29596000-29597800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr18:29596200-29598000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr18:29596400-29598200	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:29596600-29597400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr18:29596600-29597800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr18:29596800-29597400	Enhancers	Dnd41	blood
15	chr18:29596800-29597800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr18:29596800-29598000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr18:29597000-29597800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:29597000-29598000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr18:29597000-29598000	Enhancers	Fetal Thymus	thymus

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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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