Variant report

Variant	rs4869680
Chromosome Location	chr5:36632403-36632404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36629975..36633425-chr5:36634181..36637706,4	K562	blood:
2	chr5:36611749..36614255-chr5:36630691..36633129,2	MCF-7	breast:
3	chr5:36629890..36632594-chr5:36651302..36653813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10070340	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1645651	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1645658	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs378427	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs448281	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4869680	FYB	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
4	chr5:36620600-36633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:36620800-36638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:36621600-36634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:36624600-36637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:36627400-36633800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:36628600-36641000	Weak transcription	Fetal Brain Male	brain
10	chr5:36628800-36633200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:36629200-36634000	Strong transcription	Hela-S3	cervix
12	chr5:36629400-36637800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:36629600-36633600	Genic enhancers	Brain Anterior Caudate	brain
14	chr5:36629600-36633600	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:36629800-36633200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr5:36629800-36633600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:36630200-36633400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:36630200-36634000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:36630400-36633200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:36630400-36633600	Strong transcription	Left Ventricle	heart
21	chr5:36630400-36638200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:36630400-36638400	Weak transcription	Fetal Intestine Large	intestine
23	chr5:36630600-36632600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:36630600-36635200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:36630600-36641400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:36630800-36638200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:36630800-36646200	Weak transcription	NHDF-Ad	bronchial
28	chr5:36631000-36633600	Enhancers	Adipose Nuclei	Adipose
29	chr5:36631000-36635800	Weak transcription	Placenta	Placenta
30	chr5:36631000-36637600	Strong transcription	HSMM	muscle
31	chr5:36631000-36638000	Weak transcription	Right Ventricle	heart
32	chr5:36631000-36638200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:36631000-36638400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:36631000-36654400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:36631200-36633800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:36631200-36638000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:36631200-36638200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:36631200-36639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:36631400-36633200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:36631400-36634800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:36631400-36635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:36631400-36638200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:36631400-36641000	Weak transcription	Osteobl	bone
44	chr5:36631600-36636800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:36631800-36633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:36631800-36635800	Weak transcription	NHEK	skin
47	chr5:36631800-36641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:36632000-36632600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:36632000-36632600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:36632000-36632600	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links