Variant report

Variant	rs4688062
Chromosome Location	chr3:119829323-119829324
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119812621..119817617-chr3:119824950..119830930,7	K562	blood:
2	chr3:119812158..119817554-chr3:119829250..119832588,6	K562	blood:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12493535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749768	0.96[AMR][1000 genomes]
rs9289141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv3964	chr3:119786623-119831698	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	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
6	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119814600-119830600	Weak transcription	Gastric	stomach
2	chr3:119815400-119830000	Weak transcription	Fetal Lung	lung
3	chr3:119816200-119831000	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:119816200-119832600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:119816400-119831400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:119818000-119831800	Weak transcription	HSMM	muscle
7	chr3:119818600-119831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:119819800-119832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:119820000-119832200	Weak transcription	HSMMtube	muscle
10	chr3:119820200-119832000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:119820600-119829400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:119821400-119832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:119822000-119829400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:119822000-119830200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:119822000-119831800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:119822000-119835200	Weak transcription	Psoas Muscle	Psoas
17	chr3:119822200-119829800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:119822200-119830600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:119822200-119830800	Weak transcription	Pancreas	Pancrea
20	chr3:119822200-119831000	Weak transcription	Esophagus	oesophagus
21	chr3:119822400-119830600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:119822400-119831800	Weak transcription	Liver	Liver
23	chr3:119822600-119829600	Weak transcription	Fetal Brain Male	brain
24	chr3:119822600-119831800	Weak transcription	A549	lung
25	chr3:119825200-119829400	Weak transcription	NHEK	skin
26	chr3:119825200-119829800	Weak transcription	Placenta	Placenta
27	chr3:119826000-119829400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:119827600-119829400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:119827800-119829400	Weak transcription	HMEC	breast
30	chr3:119828400-119834600	Weak transcription	Aorta	Aorta
31	chr3:119828600-119831200	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links