Variant report

Variant	rs334542
Chromosome Location	chr3:119831726-119831727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119830140..119832897-chr3:119835646..119837848,2	K562	blood:
2	chr3:119827498..119829754-chr3:119831232..119833677,2	K562	blood:
3	chr3:119831699..119833814-chr3:119838273..119840235,2	MCF-7	breast:
4	chr3:119812158..119817554-chr3:119829250..119832588,6	K562	blood:
5	chr3:119812799..119816595-chr3:119829619..119835566,15	MCF-7	breast:
6	chr3:119829682..119832031-chr3:119864501..119867434,2	MCF-7	breast:
7	chr3:119831403..119834895-chr3:119845302..119848290,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244308	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs334544	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119816200-119832600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119818000-119831800	Weak transcription	HSMM	muscle
3	chr3:119818600-119831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119819800-119832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:119820000-119832200	Weak transcription	HSMMtube	muscle
6	chr3:119820200-119832000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:119821400-119832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:119822000-119831800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:119822000-119835200	Weak transcription	Psoas Muscle	Psoas
10	chr3:119822400-119831800	Weak transcription	Liver	Liver
11	chr3:119822600-119831800	Weak transcription	A549	lung
12	chr3:119828400-119834600	Weak transcription	Aorta	Aorta
13	chr3:119829400-119833200	Enhancers	NHEK	skin
14	chr3:119829400-119834400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:119829400-119834400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:119829400-119834400	Enhancers	HMEC	breast
17	chr3:119829600-119834400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:119830600-119834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:119831200-119832400	Weak transcription	Pancreas	Pancrea
20	chr3:119831200-119834400	Enhancers	NHDF-Ad	bronchial
21	chr3:119831400-119831800	Weak transcription	Osteobl	bone
22	chr3:119831400-119832600	Weak transcription	Esophagus	oesophagus

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