Variant report

Variant	rs11605348
Chromosome Location	chr11:47606483-47606484
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	chr11:47606406-47607164	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:47606467-47608044	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:47606423-47607106	K562	blood:	n/a	n/a
4	POLR2A	chr11:47606438-47608201	K562	blood:	n/a	n/a
5	POLR2A	chr11:47606419-47607101	K562	blood:	n/a	n/a
6	POLR2A	chr11:47606464-47607008	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:47606314-47607175	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
FAM180B	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1064608	0.81[AMR][1000 genomes]
rs11039307	0.87[ASN][1000 genomes]
rs12363232	0.87[AMR][1000 genomes]
rs12419692	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12798028	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12798346	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12799623	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2030166	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752856	0.81[AMR][1000 genomes]
rs4752857	0.81[AMR][1000 genomes]
rs56400411	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66749409	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7945473	0.87[EUR][1000 genomes];0.81[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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11605348	C1QTNF4	cis	Muscle Skeletal	GTEx
rs11605348	C1QTNF4	cis	lung	GTEx
rs11605348	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs11605348	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs11605348	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs11605348	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47601400-47611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47601400-47613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47601800-47606600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:47601800-47607000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:47601800-47607200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47602000-47606800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:47602000-47606800	Strong transcription	Esophagus	oesophagus
8	chr11:47602000-47607000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:47602000-47607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:47602000-47607000	Strong transcription	Fetal Lung	lung
11	chr11:47602000-47607200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:47602000-47607600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47602000-47608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:47602000-47608200	Strong transcription	Placenta	Placenta
15	chr11:47602200-47606600	Strong transcription	HepG2	liver
16	chr11:47602200-47606800	Strong transcription	Adipose Nuclei	Adipose
17	chr11:47602200-47606800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:47602200-47606800	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:47602200-47607000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:47602200-47607000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:47602200-47607000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:47602200-47607000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:47602200-47607000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:47602200-47607000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:47602200-47607000	Strong transcription	Brain Substantia Nigra	brain
26	chr11:47602200-47607000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:47602200-47607000	Strong transcription	Rectal Smooth Muscle	rectum
28	chr11:47602200-47607000	Strong transcription	Right Ventricle	heart
29	chr11:47602200-47607000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:47602200-47607200	Strong transcription	Fetal Thymus	thymus
31	chr11:47602200-47607400	Strong transcription	Lung	lung
32	chr11:47602200-47607600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:47602200-47607600	Strong transcription	Fetal Intestine Large	intestine
34	chr11:47602200-47607800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:47602200-47607800	Strong transcription	Primary T cells from cord blood	blood
36	chr11:47602200-47608200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:47602200-47608200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47602200-47608800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:47602200-47610400	Strong transcription	Fetal Brain Female	brain
40	chr11:47602400-47606600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:47602400-47606800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:47602400-47606800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:47602400-47606800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:47602400-47606800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr11:47602400-47607000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:47602400-47607000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:47602400-47607000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:47602400-47607000	Strong transcription	Liver	Liver
49	chr11:47602400-47607000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:47602400-47607200	Strong transcription	Brain Hippocampus Middle	brain

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