Variant report

Variant	rs11606553
Chromosome Location	chr11:121987854-121987855
allele	C/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	POLR2A	chr11:121984547-121998286	U87	brain:	n/a	n/a
2	POLR2A	chr11:121982711-121988988	U87	brain:	n/a	n/a
3	POLR2A	chr11:121982759-121988988	U87	brain:	n/a	n/a
4	POLR2A	chr11:121987619-121987941	ProgFib	skin:	n/a	n/a
5	JUND	chr11:121987167-121988184	SK-N-SH	brain:	n/a	chr11:121987534-121987543 chr11:121987535-121987542 chr11:121987844-121987856 chr11:121987847-121987854 chr11:121987534-121987542 chr11:121987846-121987854 chr11:121987530-121987541
6	POLR2A	chr11:121987349-121988134	HCT-116	colon:	n/a	n/a
7	POLR2A	chr11:121987767-121988152	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:121984547-121989862	U87	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLID-4	chr11:121987841-121988678	NONHSAT024790

Variant related genes	Relation type
ENSG00000255248	TF binding region
BLID	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17126101	0.84[EUR][1000 genomes]
rs17126105	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17126108	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17126110	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17126112	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17126143	0.91[AMR][1000 genomes];1.00[EUR][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	nsv832288	chr11:121962691-122161533	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	805 gene(s)	inside rSNPs	diseases
2	nsv898430	chr11:121979678-122056327	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	546 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121962800-121992400	Weak transcription	A549	lung
2	chr11:121976800-121992200	Weak transcription	Fetal Brain Female	brain
3	chr11:121977200-121989400	Strong transcription	HMEC	breast
4	chr11:121977400-121997000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:121977400-122002600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:121979800-121993400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:121980000-122007400	Weak transcription	Ovary	ovary
8	chr11:121981000-121989400	Strong transcription	HUVEC	blood vessel
9	chr11:121981600-121991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:121983000-121989200	Genic enhancers	Muscle Satellite Cultured Cells	--
11	chr11:121984000-121988000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:121984200-121997200	Strong transcription	NH-A	brain
13	chr11:121985200-121988000	Enhancers	Brain Anterior Caudate	brain
14	chr11:121985200-121988200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:121985400-121988000	Enhancers	Brain Hippocampus Middle	brain
16	chr11:121985400-121988200	Genic enhancers	Osteobl	bone
17	chr11:121985600-121988400	Genic enhancers	NHLF	lung
18	chr11:121985600-121988600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:121986000-122007600	Weak transcription	Fetal Lung	lung
20	chr11:121986200-121988200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:121986200-121988600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:121986200-121988800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:121986400-121989200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:121986400-121991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:121986600-121988200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:121986600-122007200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:121986600-122009600	Weak transcription	Aorta	Aorta
28	chr11:121987000-121996200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:121987200-121988000	Enhancers	Brain Angular Gyrus	brain
30	chr11:121987400-121988000	Genic enhancers	HSMM	muscle
31	chr11:121987400-121988200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:121987400-121989000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:121987600-121988000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr11:121987600-121990800	Weak transcription	HSMMtube	muscle
35	chr11:121987800-121989000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:121987800-121990400	Weak transcription	NHEK	skin
37	chr11:121987800-121993000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:121987800-121996000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:121987800-121996000	Weak transcription	Brain Substantia Nigra	brain

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