Variant report

Variant	rs12799294
Chromosome Location	chr11:108458144-108458145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10466558	0.82[EUR][1000 genomes]
rs1072877	0.82[EUR][1000 genomes]
rs10890863	0.92[EUR][1000 genomes]
rs10890865	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212723	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11212726	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11820265	0.92[EUR][1000 genomes]
rs12575739	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791136	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2086592	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2101141	0.81[ASN][1000 genomes]
rs34403786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105022	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3359555	chr11:108456167-108458715	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3429999	chr11:108456492-108458390	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12799294	EXPH5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108434600-108462400	Weak transcription	Gastric	stomach
2	chr11:108443800-108459600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:108443800-108459800	Weak transcription	Placenta	Placenta
4	chr11:108443800-108461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:108453600-108462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:108456200-108458400	Enhancers	GM12878-XiMat	blood
7	chr11:108456400-108459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:108456400-108459600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:108456400-108462800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:108457600-108458200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:108457600-108458200	Enhancers	Colonic Mucosa	Colon
12	chr11:108457600-108458200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:108457600-108458200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:108457600-108458200	Enhancers	Stomach Mucosa	stomach
15	chr11:108457600-108458200	Strong transcription	NHEK	skin
16	chr11:108457800-108458200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:108457800-108462800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:108458000-108458200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:108458000-108459000	Weak transcription	K562	blood

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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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