Variant report

Variant	rs1366166
Chromosome Location	chr5:5184933-5184934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1808529	0.82[LWK][hapmap]

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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1366166	IRX1	cis	parietal	SCAN
rs1366166	AP1G2	trans	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5177600-5185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:5179000-5188400	Weak transcription	Liver	Liver
3	chr5:5181800-5185200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:5181800-5185200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:5181800-5185200	Enhancers	Ovary	ovary
6	chr5:5182000-5200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:5183000-5192600	Weak transcription	HSMMtube	muscle
8	chr5:5183400-5186000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:5183800-5189400	Weak transcription	Gastric	stomach
10	chr5:5184000-5185400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:5184000-5185400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:5184000-5185600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:5184000-5185800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:5184000-5186000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:5184000-5186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:5184000-5187200	Weak transcription	Fetal Kidney	kidney
17	chr5:5184400-5190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:5184600-5185200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr5:5184600-5185800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:5184600-5186400	Strong transcription	NH-A	brain
21	chr5:5184600-5190000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:5184600-5204000	Weak transcription	Pancreas	Pancrea
23	chr5:5184800-5199200	Weak transcription	H1 Cell Line	embryonic stem cell

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