Variant report

Variant	rs386223
Chromosome Location	chr7:151049503-151049504
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:151047952..151050836-chr7:151057197..151059669,2	K562	blood:

Variant related genes	Relation type
ENSG00000013374	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs390370	0.94[EUR][1000 genomes]
rs391303	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs405281	0.83[ASW][hapmap]
rs431281	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794696	chr7:151023630-151049503	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs386223	GIMAP8	cis	cerebellum	SCAN
rs386223	NUB1	Cis_1M	lymphoblastoid	RTeQTL
rs386223	NUB1	cis	cerebellum	SCAN
rs386223	NYREN18	cis	uninvolved skin	skin_eQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151039400-151059000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:151039400-151069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:151039800-151053000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:151040400-151057400	Weak transcription	Fetal Heart	heart
5	chr7:151040600-151059400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:151041600-151061200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:151042000-151055400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:151042400-151055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:151042600-151055800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:151042600-151060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:151043600-151054000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:151043600-151056000	Strong transcription	Osteobl	bone
13	chr7:151043800-151050400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:151044600-151060800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:151044800-151052000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:151044800-151052000	Weak transcription	Ovary	ovary
17	chr7:151045600-151054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:151045800-151054200	Strong transcription	HUVEC	blood vessel
19	chr7:151045800-151058200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:151046000-151050400	Strong transcription	Brain Cingulate Gyrus	brain
21	chr7:151046000-151053800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr7:151046400-151053600	Strong transcription	NHLF	lung
23	chr7:151046400-151055800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:151046600-151051000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:151046600-151054000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:151046600-151054400	Strong transcription	Brain Germinal Matrix	brain
27	chr7:151046600-151055800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:151046800-151060000	Strong transcription	Fetal Lung	lung
29	chr7:151047200-151051200	Strong transcription	Hela-S3	cervix
30	chr7:151047200-151055400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:151047400-151055800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:151047400-151055800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:151047400-151057600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:151047400-151060000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:151047400-151060000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:151047400-151060200	Strong transcription	Fetal Stomach	stomach
37	chr7:151047400-151060800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:151047400-151061000	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:151047600-151049600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:151047600-151049800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:151047600-151050200	Weak transcription	Psoas Muscle	Psoas
42	chr7:151047600-151050400	Genic enhancers	Fetal Thymus	thymus
43	chr7:151047600-151053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:151047600-151053800	Strong transcription	NH-A	brain
45	chr7:151047600-151054400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:151047600-151060400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:151047800-151049600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr7:151047800-151049800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:151047800-151050000	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr7:151047800-151050400	Strong transcription	Placenta Amnion	Placenta Amnion

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