Variant report

Variant	rs10790370
Chromosome Location	chr11:120078393-120078394
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	CEBPB	chr11:120078343-120079190	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:120078202-120078573	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:120078196-120078578	MCF-7	breast:	n/a	n/a
4	MYC	chr11:120078285-120079942	NB4	blood:	n/a	chr11:120079701-120079710
5	CEBPB	chr11:120078243-120078473	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:120078227-120078469	K562	blood:	n/a	n/a
7	TCF7L2	chr11:120078371-120078403	Hela-S3	cervix:	n/a	n/a
8	MAX	chr11:120078322-120079958	NB4	blood:	n/a	chr11:120079701-120079710
9	CEBPB	chr11:120078225-120078552	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr11:120078214-120078572	A549	lung:	n/a	n/a
11	CEBPB	chr11:120078256-120078434	K562	blood:	n/a	n/a
12	CEBPB	chr11:120078202-120079215	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:120078206-120079131	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120061784..120063825-chr11:120078138..120080529,2	K562	blood:
2	chr11:120076442..120079107-chr11:120106498..120108828,2	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11217768	0.94[ASN][1000 genomes]
rs11217771	0.86[ASN][1000 genomes]
rs12223954	0.88[ASN][1000 genomes]
rs1551240	0.94[ASN][1000 genomes]
rs1551241	0.94[ASN][1000 genomes]
rs1551242	0.94[ASN][1000 genomes]
rs56667128	0.86[ASN][1000 genomes]
rs72645479	0.97[ASN][1000 genomes]
rs731512	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10790370	POU2F3	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120068800-120078400	Weak transcription	Small Intestine	intestine
2	chr11:120069800-120078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120071400-120078400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120074600-120079400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:120074800-120078400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:120074800-120078600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
8	chr11:120075600-120078400	Enhancers	HepG2	liver
9	chr11:120075800-120078600	Enhancers	Liver	Liver
10	chr11:120076200-120078400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:120076200-120078400	Weak transcription	Esophagus	oesophagus
12	chr11:120076200-120078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:120076200-120080600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:120076200-120080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:120076400-120078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:120076400-120078800	Weak transcription	HSMM	muscle
17	chr11:120076400-120079400	Weak transcription	NH-A	brain
18	chr11:120076600-120078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:120076600-120078600	Weak transcription	Osteobl	bone
20	chr11:120076600-120080600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:120076800-120078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:120076800-120078400	Weak transcription	NHDF-Ad	bronchial
23	chr11:120076800-120078600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:120076800-120078600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:120076800-120078800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:120076800-120078800	Weak transcription	NHLF	lung
27	chr11:120076800-120079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:120076800-120079200	Weak transcription	NHEK	skin
29	chr11:120077000-120080600	Enhancers	Fetal Stomach	stomach
30	chr11:120077000-120080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:120077200-120078600	Weak transcription	HMEC	breast
32	chr11:120077200-120078800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:120077200-120078800	Weak transcription	HSMMtube	muscle
34	chr11:120077600-120079000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:120078000-120081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:120078200-120079400	Enhancers	Fetal Lung	lung
37	chr11:120078200-120079400	Enhancers	Fetal Thymus	thymus
38	chr11:120078200-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:120078200-120080800	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links