Variant report

Variant	rs3824881
Chromosome Location	chr11:119995279-119995280
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	chr11:119994915-119995663	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr11:119994859-119995732	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:119995205-119995313	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr11:119991833-119996186	Hela-S3	cervix:	n/a	chr11:119993842-119993851 chr11:119995853-119995862 chr11:119993841-119993850 chr11:119994713-119994722
5	POLR2A	chr11:119995175-119995426	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr11:119995251-119995304	Hela-S3	cervix:	n/a	n/a
7	REST	chr11:119994694-119995826	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119994516..119997307-chr11:120107170..120108750,2	MCF-7	breast:
2	chr11:119990218..119993185-chr11:119994723..119998416,4	K562	blood:
3	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
4	chr11:119994653..119996281-chr11:120031223..120034456,3	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10892536	1.00[EUR][1000 genomes]
rs11217677	1.00[EUR][1000 genomes]
rs11217683	1.00[EUR][1000 genomes]
rs11217684	1.00[EUR][1000 genomes]
rs11217685	1.00[EUR][1000 genomes]
rs11217690	1.00[EUR][1000 genomes]
rs11217691	1.00[EUR][1000 genomes]
rs11217692	1.00[EUR][1000 genomes]
rs11217694	1.00[EUR][1000 genomes]
rs11217697	1.00[EUR][1000 genomes]
rs11217699	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11217701	0.81[ASN][1000 genomes]
rs12224041	0.81[ASN][1000 genomes]
rs12418174	1.00[EUR][1000 genomes]
rs12419706	1.00[EUR][1000 genomes]
rs12419830	0.81[ASN][1000 genomes]
rs2276160	1.00[EUR][1000 genomes]
rs3781667	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3781668	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3781669	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824882	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3896312	1.00[EUR][1000 genomes]
rs4938778	1.00[EUR][1000 genomes]
rs57144901	1.00[EUR][1000 genomes]
rs58043425	1.00[EUR][1000 genomes]
rs61095798	1.00[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119991200-119996600	Enhancers	Placenta	Placenta
2	chr11:119991200-119997000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:119991200-119999000	Genic enhancers	HMEC	breast
4	chr11:119991400-119996000	Enhancers	Stomach Mucosa	stomach
5	chr11:119993400-119998800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:119993400-119998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:119993400-119999800	Weak transcription	Fetal Thymus	thymus
8	chr11:119993400-120000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:119993600-119995800	Genic enhancers	NHEK	skin
10	chr11:119993600-119996000	Enhancers	K562	blood
11	chr11:119993800-119996800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:119993800-119996800	Genic enhancers	Esophagus	oesophagus
13	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
14	chr11:119994200-119996000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:119994200-119997600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:119994400-119996200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:119994400-119996800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:119994400-119998800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:119994600-119995600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:119994600-119998600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:119994600-119998800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:119994800-119996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:119994800-119996800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:119995000-119996200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:119995000-119996800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:119995200-119995600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:119995200-119995600	Genic enhancers	Hela-S3	cervix
28	chr11:119995200-119996000	Enhancers	Spleen	Spleen
29	chr11:119995200-119996200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:119995200-120000200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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