Variant report

Variant	rs4704249
Chromosome Location	chr5:75143856-75143857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17740154	1.00[EUR][1000 genomes]
rs28433586	0.86[ASN][1000 genomes]
rs4579233	1.00[EUR][1000 genomes]
rs58453529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453170	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73763443	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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription 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	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv830354	chr5:75074143-75259398	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75140000-75144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:75140200-75144600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:75141200-75145200	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:75141600-75144600	Enhancers	Primary B cells from cord blood	blood
5	chr5:75142400-75144200	Flanking Active TSS	GM12878-XiMat	blood
6	chr5:75143000-75144000	Enhancers	Stomach Mucosa	stomach
7	chr5:75143200-75144000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:75143200-75144200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:75143200-75144200	Enhancers	Gastric	stomach
10	chr5:75143200-75144200	Enhancers	Pancreas	Pancrea
11	chr5:75143200-75144200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:75143800-75144200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:75143800-75144200	Flanking Active TSS	Fetal Heart	heart
14	chr5:75143800-75144200	Enhancers	Spleen	Spleen

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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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