Variant report

Variant	rs11128123
Chromosome Location	chr3:69385650-69385651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7617709	0.83[ASN][1000 genomes]
rs9872564	0.82[CEU][hapmap]

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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11128123	FRMD4B	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:69374800-69388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:69376400-69388600	Weak transcription	Aorta	Aorta
4	chr3:69376800-69388400	Weak transcription	HSMMtube	muscle
5	chr3:69378400-69390600	Weak transcription	Thymus	Thymus
6	chr3:69378400-69400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:69380400-69387600	Weak transcription	Dnd41	blood
8	chr3:69380600-69387400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:69380600-69393200	Weak transcription	HSMM	muscle
10	chr3:69380800-69388000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:69380800-69390600	Weak transcription	Fetal Lung	lung
12	chr3:69381200-69388000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:69381200-69388400	Weak transcription	Placenta	Placenta
14	chr3:69381400-69388600	Weak transcription	Spleen	Spleen
15	chr3:69381800-69389000	Weak transcription	Lung	lung
16	chr3:69383600-69387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:69383600-69387800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:69383600-69388600	Weak transcription	HUVEC	blood vessel
19	chr3:69384400-69387800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:69384400-69387800	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:69384400-69388400	Weak transcription	Left Ventricle	heart
22	chr3:69384400-69388400	Weak transcription	Right Atrium	heart
23	chr3:69384400-69389000	Weak transcription	Brain Angular Gyrus	brain
24	chr3:69384400-69389800	Weak transcription	Brain Anterior Caudate	brain
25	chr3:69384400-69390600	Weak transcription	Fetal Heart	heart
26	chr3:69384400-69390800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:69384600-69388200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:69384800-69388200	Weak transcription	Brain Substantia Nigra	brain
29	chr3:69385200-69385800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:69385200-69386000	Strong transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links