Variant report

Variant	rs36234280
Chromosome Location	chr11:17498761-17498762
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr11:17498439-17498884	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:17498454-17498848	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:17498727-17498927	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:17498444-17498855	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr11:17498735-17498781	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:17498538-17498773	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17408194..17409948-chr11:17498514..17500744,2	MCF-7	breast:

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000187486	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs36234282	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36234283	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv897019	chr11:17475443-17499547	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17496800-17499000	Active TSS	Brain Angular Gyrus	brain
2	chr11:17496800-17499000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:17497200-17498800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:17497200-17498800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:17497200-17498800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:17497200-17498800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:17497200-17499000	Active TSS	Fetal Brain Female	brain
8	chr11:17497400-17498800	Active TSS	Brain Anterior Caudate	brain
9	chr11:17497400-17498800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:17497400-17499000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:17497400-17499200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr11:17497600-17498800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:17497600-17498800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr11:17497600-17499000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:17497800-17498800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr11:17497800-17498800	Bivalent/Poised TSS	A549	lung
17	chr11:17498000-17498800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
18	chr11:17498000-17498800	Enhancers	Lung	lung
19	chr11:17498200-17498800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
20	chr11:17498200-17498800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:17498200-17498800	Active TSS	Dnd41	blood
22	chr11:17498400-17498800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:17498400-17498800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:17498400-17498800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr11:17498400-17498800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:17498400-17498800	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr11:17498400-17498800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr11:17498400-17499000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr11:17498400-17500400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:17498400-17501000	Weak transcription	Gastric	stomach
31	chr11:17498400-17501000	Weak transcription	Pancreas	Pancrea
32	chr11:17498600-17498800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:17498600-17498800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:17498600-17498800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:17498600-17498800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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