Variant report

Variant	rs55857714
Chromosome Location	chr4:186658780-186658781
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]
rs56110010	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62334818	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857307	0.80[EUR][1000 genomes]
rs72496330	0.91[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186648400-186658800	Weak transcription	Brain Germinal Matrix	brain
2	chr4:186649200-186659000	Weak transcription	Fetal Kidney	kidney
3	chr4:186651000-186660000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:186652000-186658800	Weak transcription	Lung	lung
5	chr4:186652000-186659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:186652200-186659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:186652200-186659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:186652400-186660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:186652600-186658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:186652600-186661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:186654200-186662200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:186654800-186658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:186655200-186659000	Weak transcription	HSMMtube	muscle
14	chr4:186655200-186660000	Weak transcription	HepG2	liver
15	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:186655400-186660200	Enhancers	Fetal Stomach	stomach
17	chr4:186655800-186658800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:186655800-186658800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:186655800-186658800	Enhancers	Pancreas	Pancrea
20	chr4:186655800-186667600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:186656000-186659000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:186656000-186659000	Enhancers	Right Atrium	heart
23	chr4:186656200-186659000	Enhancers	Liver	Liver
24	chr4:186656200-186659200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:186656200-186661400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:186656200-186662200	Enhancers	Fetal Brain Male	brain
27	chr4:186656200-186676200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:186656600-186658800	Weak transcription	Fetal Lung	lung
29	chr4:186656600-186658800	Weak transcription	HUVEC	blood vessel
30	chr4:186657000-186658800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:186657000-186658800	Enhancers	Colon Smooth Muscle	Colon
32	chr4:186657000-186659600	Enhancers	Placenta	Placenta
33	chr4:186657200-186659200	Enhancers	Aorta	Aorta
34	chr4:186657200-186659200	Enhancers	Left Ventricle	heart
35	chr4:186657200-186659400	Enhancers	Right Ventricle	heart
36	chr4:186657200-186662400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:186657400-186660800	Enhancers	Brain Anterior Caudate	brain
38	chr4:186657400-186663800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:186657600-186660000	Weak transcription	GM12878-XiMat	blood
40	chr4:186657600-186661600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:186657600-186662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:186657800-186658800	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:186657800-186659000	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:186657800-186659000	Enhancers	Ovary	ovary
45	chr4:186657800-186659000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:186657800-186659200	Enhancers	Brain Angular Gyrus	brain
47	chr4:186657800-186659400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:186657800-186661600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:186657800-186661600	Enhancers	Fetal Brain Female	brain
50	chr4:186658000-186658800	Enhancers	Rectal Smooth Muscle	rectum

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