Variant report

Variant	rs3827594
Chromosome Location	chr4:147561654-147561655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10005616	0.88[ASN][1000 genomes]
rs10011145	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10024327	0.90[EUR][1000 genomes]
rs13107210	0.84[ASN][1000 genomes]
rs13134193	0.90[EUR][1000 genomes]
rs13152799	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28478962	0.88[ASN][1000 genomes]
rs34375288	0.90[EUR][1000 genomes]
rs3762842	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3810843	0.88[ASN][1000 genomes]
rs6537430	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856128	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830107	chr4:147452434-147635720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv880238	chr4:147469559-147617963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2753640	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2754145	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv822768	chr4:147556986-147562654	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147558000-147562000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:147558000-147562000	Enhancers	Pancreas	Pancrea
3	chr4:147558200-147561800	Bivalent Enhancer	Lung	lung
4	chr4:147558200-147562200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr4:147558800-147561800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr4:147559000-147562200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr4:147559600-147562200	Bivalent Enhancer	Spleen	Spleen
8	chr4:147560400-147561800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr4:147560400-147562000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr4:147560400-147562000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:147560400-147562000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:147560400-147562200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr4:147560600-147561800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
14	chr4:147560600-147562000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:147560600-147562000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:147560600-147562000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:147560800-147561800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:147560800-147561800	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr4:147560800-147561800	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr4:147560800-147562000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr4:147561000-147562000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:147561000-147562200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr4:147561200-147561800	Bivalent Enhancer	Fetal Heart	heart
24	chr4:147561200-147562200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr4:147561400-147561800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:147561400-147562000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:147561400-147562400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:147561600-147561800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr4:147561600-147561800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr4:147561600-147561800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:147561600-147561800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:147561600-147561800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:147561600-147561800	Bivalent Enhancer	Fetal Brain Female	brain
34	chr4:147561600-147561800	Flanking Bivalent TSS/Enh	NH-A	brain
35	chr4:147561600-147562000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:147561600-147562000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:147561600-147562000	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr4:147561600-147562000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
39	chr4:147561600-147562200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:147561600-147562200	Bivalent Enhancer	Brain Angular Gyrus	brain
41	chr4:147561600-147562400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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