Variant report

Variant	rs2186675
Chromosome Location	chr11:76309096-76309097
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	chr11:76300424..76303049-chr11:76308365..76310172,3	K562	blood:
2	chr11:76301219..76303049-chr11:76308621..76311229,3	K562	blood:

Variant related genes	Relation type
ENSG00000254755	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10899238	0.90[ASN][1000 genomes]
rs11236798	0.81[ASN][1000 genomes]
rs11236809	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12222706	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575191	0.82[ASN][1000 genomes]
rs4438063	0.84[ASN][1000 genomes]
rs59753271	0.81[ASN][1000 genomes]
rs60413358	0.82[ASN][1000 genomes]
rs61380430	0.84[ASN][1000 genomes]
rs61566046	0.84[ASN][1000 genomes]
rs7942382	0.81[ASN][1000 genomes]
rs7945414	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518717	chr11:76288937-76310976	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76301800-76310000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:76303000-76309200	Weak transcription	Lung	lung
3	chr11:76303200-76313600	Weak transcription	Gastric	stomach
4	chr11:76303200-76315600	Weak transcription	Brain Angular Gyrus	brain
5	chr11:76303600-76315800	Weak transcription	Esophagus	oesophagus
6	chr11:76304200-76312600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:76304200-76313200	Weak transcription	Stomach Mucosa	stomach
8	chr11:76304400-76309200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:76304400-76313400	Weak transcription	Colonic Mucosa	Colon
10	chr11:76304400-76315600	Weak transcription	Pancreas	Pancrea
11	chr11:76305000-76312800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:76307400-76309400	Enhancers	Spleen	Spleen
13	chr11:76307800-76311000	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:76308200-76309400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:76308200-76310200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:76308800-76309200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:76308800-76309800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr11:76308800-76309800	Enhancers	Fetal Thymus	thymus
19	chr11:76308800-76311000	Enhancers	Placenta	Placenta
20	chr11:76308800-76311400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:76309000-76309400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:76309000-76310400	Enhancers	Right Ventricle	heart
23	chr11:76309000-76310800	Enhancers	Fetal Muscle Leg	muscle

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