Variant report

Variant	rs186562
Chromosome Location	chr4:76738361-76738362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76593006..76595820-chr4:76737546..76740383,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10014281	0.91[CEU][hapmap];0.86[MEX][hapmap]
rs10028884	0.83[CEU][hapmap]
rs11729258	0.91[CEU][hapmap]
rs226416	1.00[CEU][hapmap]
rs324689	1.00[CEU][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs324692	0.81[EUR][1000 genomes]
rs324695	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs324708	1.00[CEU][hapmap]
rs324711	1.00[CEU][hapmap]
rs324715	1.00[CEU][hapmap]
rs324716	1.00[CEU][hapmap];0.86[MEX][hapmap]
rs324717	1.00[CEU][hapmap]
rs324718	1.00[CEU][hapmap]
rs324721	1.00[CEU][hapmap]
rs324724	0.81[EUR][1000 genomes]
rs324725	1.00[CEU][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs324737	0.81[EUR][1000 genomes]
rs3853184	1.00[CEU][hapmap];0.86[MEX][hapmap]
rs443952	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4859550	0.91[CEU][hapmap];0.86[MEX][hapmap]
rs7662940	0.83[CEU][hapmap];0.86[MEX][hapmap]
rs7677150	0.91[CEU][hapmap];0.85[MEX][hapmap]
rs7691385	0.91[CEU][hapmap];0.86[MEX][hapmap]

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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs186562	PPEF2	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
2	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:76707800-76738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:76722400-76738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:76725200-76738400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:76730000-76738600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:76730000-76738800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:76730400-76738400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:76732600-76739400	Strong transcription	NHLF	lung
10	chr4:76732800-76738400	Strong transcription	NH-A	brain
11	chr4:76733200-76738600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr4:76735400-76738400	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr4:76735600-76738800	Strong transcription	Fetal Stomach	stomach
14	chr4:76736200-76743400	Weak transcription	Fetal Brain Male	brain
15	chr4:76736400-76738400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:76736400-76739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:76736400-76739600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:76736400-76742200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:76736400-76743600	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:76736400-76744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:76736600-76738400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:76736600-76738800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:76736600-76739400	Weak transcription	Right Ventricle	heart
24	chr4:76736600-76739600	Weak transcription	Spleen	Spleen
25	chr4:76736600-76741200	Weak transcription	Aorta	Aorta
26	chr4:76736600-76741400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:76736600-76741400	Weak transcription	HepG2	liver
28	chr4:76736600-76742000	Weak transcription	Esophagus	oesophagus
29	chr4:76736600-76743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:76736600-76743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:76736600-76743600	Weak transcription	Gastric	stomach
32	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:76736800-76738400	Weak transcription	Brain Germinal Matrix	brain
35	chr4:76736800-76738400	Weak transcription	Fetal Intestine Large	intestine
36	chr4:76736800-76738400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:76736800-76738400	Weak transcription	Dnd41	blood
38	chr4:76736800-76738400	Weak transcription	NHEK	skin
39	chr4:76736800-76738600	Weak transcription	Primary B cells from cord blood	blood
40	chr4:76736800-76738600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:76736800-76738600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:76736800-76738800	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:76736800-76739000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:76736800-76739400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:76736800-76739400	Weak transcription	GM12878-XiMat	blood
46	chr4:76736800-76739600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:76736800-76739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:76736800-76739600	Weak transcription	Fetal Thymus	thymus
49	chr4:76736800-76739600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:76736800-76739600	Weak transcription	Rectal Mucosa Donor 31	rectum

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