Variant report

Variant	rs2402350
Chromosome Location	chr5:17172790-17172791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12653191	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13162280	0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs68182860	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17155200-17181200	Weak transcription	Hela-S3	cervix
2	chr5:17161200-17186400	Weak transcription	Fetal Brain Female	brain
3	chr5:17167600-17173000	Weak transcription	Fetal Brain Male	brain
4	chr5:17167800-17180600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:17168000-17185600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:17168000-17186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:17170000-17177600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:17170000-17178400	Weak transcription	A549	lung
9	chr5:17170200-17178400	Weak transcription	HSMM	muscle
10	chr5:17170200-17180600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:17170400-17177000	Weak transcription	Placenta	Placenta
12	chr5:17171200-17181000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:17171400-17177200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:17171400-17180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:17172400-17173200	Enhancers	Fetal Lung	lung
16	chr5:17172400-17173400	Enhancers	HUVEC	blood vessel
17	chr5:17172600-17173000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:17172600-17173000	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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