Variant report

Variant	rs11265565
Chromosome Location	chr1:161180512-161180513
allele	A/G
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	chr1:161180319-161180594	HepG2	liver:	n/a	n/a
2	CTCF	chr1:161179396-161180664	A549	lung:	n/a	chr1:161179774-161179792 chr1:161179776-161179797

No.	Distal block	Cell Line	Cell type
1	chr1:161177155..161181241-chr1:161281992..161286131,5	K562	blood:
2	chr1:161179772..161182627-chr1:161189790..161192489,3	MCF-7	breast:
3	chr1:161178470..161182189-chr1:161183792..161185908,3	K562	blood:
4	chr1:161146966..161148983-chr1:161179143..161181641,2	K562	blood:
5	chr1:161178175..161181614-chr1:161276082..161277879,3	K562	blood:
6	chr1:161179856..161181957-chr1:161183468..161185300,2	MCF-7	breast:

Variant related genes	Relation type
FCER1G	TF binding region
NDUFS2	TF binding region
ENSG00000268387	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158869	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000143252	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12094497	0.81[MKK][hapmap];0.80[YRI][hapmap]
rs74124656	1.00[EUR][1000 genomes]
rs74124657	1.00[EUR][1000 genomes]
rs74124660	1.00[EUR][1000 genomes]
rs74124662	1.00[EUR][1000 genomes]
rs74124668	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11265565	USF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161186800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161173400-161185200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:161173400-161185400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:161173600-161184400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr1:161173600-161184600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:161173600-161184800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:161173600-161185000	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:161173800-161185400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:161173800-161185400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:161174200-161182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:161174200-161184400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:161174200-161185200	Strong transcription	Brain Germinal Matrix	brain
14	chr1:161174200-161185400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:161174600-161185000	Strong transcription	Dnd41	blood
16	chr1:161175000-161185400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:161175000-161185800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:161175400-161184400	Strong transcription	NHEK	skin
19	chr1:161175400-161185800	Strong transcription	Fetal Stomach	stomach
20	chr1:161175800-161184800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:161176000-161185200	Strong transcription	Thymus	Thymus
22	chr1:161176000-161185400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:161176400-161184600	Strong transcription	Esophagus	oesophagus
24	chr1:161176400-161184800	Strong transcription	Adipose Nuclei	Adipose
25	chr1:161176400-161185800	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr1:161176600-161184800	Strong transcription	Primary T cells from cord blood	blood
27	chr1:161177000-161185000	Strong transcription	Brain Anterior Caudate	brain
28	chr1:161177200-161184200	Strong transcription	Fetal Lung	lung
29	chr1:161177200-161184400	Strong transcription	Osteobl	bone
30	chr1:161177200-161185600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:161177400-161181200	Strong transcription	NHDF-Ad	bronchial
32	chr1:161177400-161184400	Strong transcription	HSMM	muscle
33	chr1:161177400-161185000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:161177400-161186000	Weak transcription	Right Atrium	heart
35	chr1:161178200-161184800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:161178200-161185400	Strong transcription	Gastric	stomach
37	chr1:161178200-161185400	Strong transcription	NH-A	brain
38	chr1:161178400-161184600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:161178400-161185200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:161178600-161183400	Strong transcription	Primary B cells from cord blood	blood
41	chr1:161178600-161183800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:161178600-161184200	Strong transcription	HSMMtube	muscle
43	chr1:161178600-161184400	Strong transcription	Fetal Kidney	kidney
44	chr1:161178600-161185000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:161178600-161185000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:161178600-161185000	Strong transcription	Colonic Mucosa	Colon
47	chr1:161178600-161185600	Strong transcription	NHLF	lung
48	chr1:161178800-161180600	Genic enhancers	Liver	Liver
49	chr1:161178800-161180800	Strong transcription	Aorta	Aorta
50	chr1:161178800-161184400	Strong transcription	H9 Cell Line	embryonic stem cell

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