Variant report

Variant	rs62334818
Chromosome Location	chr4:186659171-186659172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28521093	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55857714	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110010	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857307	0.80[EUR][1000 genomes]
rs72496330	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186651000-186660000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:186652200-186659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:186652400-186660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:186652600-186661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:186654200-186662200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:186655200-186660000	Weak transcription	HepG2	liver
7	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:186655400-186660200	Enhancers	Fetal Stomach	stomach
9	chr4:186655800-186667600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:186656200-186659200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:186656200-186661400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:186656200-186662200	Enhancers	Fetal Brain Male	brain
13	chr4:186656200-186676200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:186657000-186659600	Enhancers	Placenta	Placenta
15	chr4:186657200-186659200	Enhancers	Aorta	Aorta
16	chr4:186657200-186659200	Enhancers	Left Ventricle	heart
17	chr4:186657200-186659400	Enhancers	Right Ventricle	heart
18	chr4:186657200-186662400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:186657400-186660800	Enhancers	Brain Anterior Caudate	brain
20	chr4:186657400-186663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:186657600-186660000	Weak transcription	GM12878-XiMat	blood
22	chr4:186657600-186661600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:186657600-186662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:186657800-186659200	Enhancers	Brain Angular Gyrus	brain
25	chr4:186657800-186659400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:186657800-186661600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:186657800-186661600	Enhancers	Fetal Brain Female	brain
28	chr4:186658000-186660200	Enhancers	Fetal Muscle Leg	muscle
29	chr4:186658000-186661400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:186658200-186659200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:186658200-186659400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:186658200-186659600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:186658200-186660600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:186658200-186661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:186658200-186663600	Weak transcription	Stomach Mucosa	stomach
36	chr4:186658400-186660200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:186658400-186662200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:186658600-186659200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:186658600-186659400	Enhancers	Esophagus	oesophagus
40	chr4:186658600-186659600	Enhancers	NH-A	brain
41	chr4:186658600-186660600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:186658800-186659200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:186658800-186659200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:186658800-186659200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:186658800-186659200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr4:186658800-186659200	Enhancers	Lung	lung
47	chr4:186658800-186659200	Genic enhancers	Pancreas	Pancrea
48	chr4:186658800-186659200	Flanking Active TSS	HSMM	muscle
49	chr4:186658800-186659200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:186658800-186659200	Flanking Active TSS	NHLF	lung

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