Variant report

Variant	rs10890866
Chromosome Location	chr11:108460448-108460449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108459675..108461539-chr11:108462920..108467319,4	K562	blood:
2	chr11:108447483..108450255-chr11:108459969..108461795,2	K562	blood:
3	chr11:108452987..108455068-chr11:108459027..108461050,2	K562	blood:

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10466558	0.81[EUR][1000 genomes]
rs1072877	0.81[EUR][1000 genomes]
rs10789671	0.81[EUR][1000 genomes]
rs10890863	0.91[EUR][1000 genomes]
rs10890865	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212723	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11212726	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11820265	0.91[EUR][1000 genomes]
rs12575739	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791136	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12799294	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086592	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2101141	0.81[ASN][1000 genomes]
rs34403786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105022	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10890866	EXPH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108434600-108462400	Weak transcription	Gastric	stomach
2	chr11:108443800-108461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:108453600-108462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:108456400-108462800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:108457800-108462800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:108458200-108461200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:108458200-108462600	Weak transcription	Stomach Mucosa	stomach
8	chr11:108458200-108463400	Weak transcription	Colonic Mucosa	Colon
9	chr11:108458400-108462600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:108459000-108460600	Enhancers	K562	blood
11	chr11:108459600-108461600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:108459600-108462400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:108459800-108460600	Flanking Active TSS	NHEK	skin
14	chr11:108460000-108462600	Weak transcription	HSMMtube	muscle
15	chr11:108460000-108463400	Weak transcription	HSMM	muscle
16	chr11:108460200-108460600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:108460200-108462000	Weak transcription	Placenta	Placenta
18	chr11:108460200-108462200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:108460200-108463400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:108460400-108462800	Weak transcription	GM12878-XiMat	blood

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