Variant report

Variant	rs569044
Chromosome Location	chr11:119999191-119999192
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	FOXA1	chr11:119999178-119999877	T-47D	breast:	n/a	n/a
2	GATA3	chr11:119998961-119999861	T-47D	breast:	n/a	chr11:119999482-119999499
3	POLR2A	chr11:119999072-120000644	MCF10A-Er-Src	breast:	n/a	n/a
4	SMARCC1	chr11:119998967-120000301	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119992602..119994710-chr11:119998240..120000665,2	MCF-7	breast:
2	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
3	chr11:119999095..120001127-chr11:120038214..120040210,2	MCF-7	breast:
4	chr11:119995303..119997544-chr11:119999140..120002182,3	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2084897	0.82[EUR][1000 genomes]
rs2084898	0.82[EUR][1000 genomes]
rs2084899	0.82[EUR][1000 genomes]
rs477337	0.90[EUR][1000 genomes]
rs477361	0.87[EUR][1000 genomes]
rs504236	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs504976	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs530291	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs55920307	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs562015	0.86[AMR][1000 genomes]
rs56339619	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56391092	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7114201	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs569044	PHLDB1	cis	cerebellum	SCAN
rs569044	TBCEL	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119993400-119999800	Weak transcription	Fetal Thymus	thymus
2	chr11:119993400-120000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
4	chr11:119995200-120000200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:119997600-120003200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr11:119998000-120000200	Genic enhancers	Esophagus	oesophagus
7	chr11:119998600-120000400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:119998600-120000800	Enhancers	Rectal Smooth Muscle	rectum
9	chr11:119998600-120001200	Enhancers	Colon Smooth Muscle	Colon
10	chr11:119998800-119999200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:119998800-119999200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:119998800-119999400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:119998800-119999800	Enhancers	Colonic Mucosa	Colon
14	chr11:119998800-120000200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:119998800-120000200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:119998800-120000400	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:119998800-120000400	Enhancers	Stomach Mucosa	stomach
18	chr11:119998800-120000600	Enhancers	Fetal Intestine Large	intestine
19	chr11:119998800-120000800	Enhancers	Fetal Intestine Small	intestine
20	chr11:119999000-119999200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:119999000-119999400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:119999000-119999400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:119999000-119999600	Flanking Active TSS	Hela-S3	cervix
24	chr11:119999000-119999600	Flanking Active TSS	HMEC	breast
25	chr11:119999000-119999800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:119999000-120000000	Enhancers	Adipose Nuclei	Adipose
27	chr11:119999000-120000600	Transcr. at gene 5' and 3'	NHEK	skin
28	chr11:119999000-120001400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:119999000-120001600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:119999000-120006400	Enhancers	Placenta	Placenta

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