Variant report

Variant	rs11236234
Chromosome Location	chr11:74441796-74441797
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74440853..74443969-chr11:74454724..74458008,3	K562	blood:
2	chr11:74441741..74443246-chr11:74464573..74467415,2	K562	blood:

Variant related genes	Relation type
ENSG00000264095	Chromatin interaction
ENSG00000227615	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10899041	0.94[ASN][1000 genomes]
rs10899042	0.85[ASN][1000 genomes]
rs11236233	0.93[ASN][1000 genomes]
rs11236236	0.93[ASN][1000 genomes]
rs12417156	0.91[ASN][1000 genomes]
rs12419371	0.82[ASN][1000 genomes]
rs12576444	0.94[ASN][1000 genomes]
rs1433771	0.94[ASN][1000 genomes]
rs4944943	0.94[ASN][1000 genomes]
rs4944944	0.98[ASN][1000 genomes]
rs4944947	0.82[ASN][1000 genomes]
rs55837439	0.94[ASN][1000 genomes]
rs56187629	0.92[ASN][1000 genomes]
rs61897000	0.93[ASN][1000 genomes]
rs968305	0.94[ASN][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11236234	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs11236234	XRRA1	cis	Esophagus Mucosa	GTEx
rs11236234	XRRA1	cis	Adipose Subcutaneous	GTEx
rs11236234	RP11-147I3.1	cis	Thyroid	GTEx
rs11236234	XRRA1	cis	Thyroid	GTEx
rs11236234	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs11236234	XRRA1	cis	Muscle Skeletal	GTEx
rs11236234	XRRA1	cis	Esophagus Muscularis	GTEx
rs11236234	XRRA1	cis	Whole Blood	GTEx
rs11236234	XRRA1	cis	Artery Tibial	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74432800-74442000	Weak transcription	Right Atrium	heart
2	chr11:74432800-74442000	Weak transcription	Spleen	Spleen
3	chr11:74434800-74442000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:74438000-74442000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:74438000-74442000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:74441200-74443000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:74441200-74443200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:74441400-74441800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr11:74441400-74441800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:74441400-74442000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr11:74441400-74442200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
12	chr11:74441400-74443000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:74441600-74441800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:74441600-74441800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr11:74441600-74441800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:74441600-74441800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:74441600-74441800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
18	chr11:74441600-74441800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr11:74441600-74441800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr11:74441600-74441800	Enhancers	Lung	lung
21	chr11:74441600-74441800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr11:74441600-74442000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr11:74441600-74442000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr11:74441600-74442000	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr11:74441600-74442200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:74441600-74442200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:74441600-74442200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr11:74441600-74442400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:74441600-74442400	Bivalent Enhancer	Esophagus	oesophagus
30	chr11:74441600-74442600	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr11:74441600-74442800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:74441600-74442800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:74441600-74443000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr11:74441600-74443000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:74441600-74443200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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