Variant report

Variant	rs61790715
Chromosome Location	chr4:20618250-20618251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11729598	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61790714	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8663	0.94[EUR][1000 genomes]
rs9070	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases
2	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
2	chr4:20589200-20620800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:20590000-20620400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:20590800-20618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:20593000-20619000	Weak transcription	Placenta	Placenta
6	chr4:20594400-20619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:20594800-20620600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:20597800-20624600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:20598600-20619200	Weak transcription	Ovary	ovary
10	chr4:20600400-20619000	Weak transcription	Fetal Kidney	kidney
11	chr4:20600800-20619000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:20612800-20619000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:20615200-20620400	Weak transcription	Gastric	stomach
14	chr4:20616600-20618800	Enhancers	HMEC	breast
15	chr4:20616600-20620400	Weak transcription	Fetal Brain Male	brain
16	chr4:20616800-20618600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:20616800-20620600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:20617000-20620600	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:20617000-20623200	Genic enhancers	Fetal Lung	lung
20	chr4:20617200-20621000	Enhancers	Fetal Intestine Small	intestine
21	chr4:20617400-20618400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:20617600-20618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:20617600-20618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:20617600-20620200	Weak transcription	Aorta	Aorta
25	chr4:20617600-20620400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:20617600-20620600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:20617800-20619000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:20617800-20619600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:20617800-20620000	Weak transcription	NH-A	brain
30	chr4:20618000-20618600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:20618000-20618600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:20618000-20618800	Enhancers	Colonic Mucosa	Colon
33	chr4:20618000-20619000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:20618000-20619000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:20618000-20619200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:20618000-20619400	Weak transcription	Fetal Intestine Large	intestine
37	chr4:20618000-20619600	Weak transcription	HUVEC	blood vessel
38	chr4:20618000-20619800	Weak transcription	NHLF	lung
39	chr4:20618000-20620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:20618000-20620200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:20618000-20622800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:20618000-20622800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:20618000-20626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:20618200-20618800	Strong transcription	Fetal Stomach	stomach
45	chr4:20618200-20619600	Weak transcription	Osteobl	bone
46	chr4:20618200-20619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:20618200-20623400	Strong transcription	NHDF-Ad	bronchial
48	chr4:20618200-20625800	Weak transcription	NHEK	skin

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