Variant report

Variant	rs395228
Chromosome Location	chr4:79258294-79258295
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1378236	1.00[AMR][1000 genomes]
rs1378240	1.00[AMR][1000 genomes]
rs1580106	1.00[AMR][1000 genomes]
rs1840387	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs345504	1.00[AMR][1000 genomes]
rs345505	1.00[AMR][1000 genomes]
rs345508	1.00[AMR][1000 genomes]
rs345509	1.00[AMR][1000 genomes]
rs345510	1.00[AMR][1000 genomes]
rs345512	1.00[AMR][1000 genomes]
rs345537	1.00[AMR][1000 genomes]
rs369056	1.00[AMR][1000 genomes]
rs391945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs405843	1.00[AMR][1000 genomes]
rs448495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs649887	1.00[AMR][1000 genomes]
rs6533577	1.00[AMR][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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv4399	chr4:79251832-79284571	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv14891	chr4:79256788-79263029	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
3	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
6	chr4:79253400-79258600	Weak transcription	Placenta	Placenta
7	chr4:79253800-79264800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:79254600-79258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:79254600-79261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:79255800-79259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79256400-79258400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:79256400-79258400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:79256400-79259600	Enhancers	Fetal Heart	heart
14	chr4:79256400-79265200	Strong transcription	HepG2	liver
15	chr4:79256600-79258400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:79256600-79261800	Weak transcription	Aorta	Aorta
17	chr4:79256800-79258400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:79257400-79258400	Enhancers	Fetal Intestine Large	intestine
19	chr4:79257400-79259000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:79257400-79259000	Enhancers	Ovary	ovary
21	chr4:79257400-79259000	Enhancers	HSMMtube	muscle
22	chr4:79257400-79259200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:79257600-79258800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:79257600-79258800	Enhancers	Fetal Lung	lung
25	chr4:79257600-79259000	Enhancers	Fetal Muscle Leg	muscle
26	chr4:79257600-79259200	Enhancers	Brain Germinal Matrix	brain
27	chr4:79257800-79258600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:79257800-79258800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:79257800-79259000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:79257800-79259000	Enhancers	NHDF-Ad	bronchial
31	chr4:79257800-79259200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:79258000-79258400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:79258000-79258400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:79258000-79258400	Enhancers	Fetal Brain Male	brain
35	chr4:79258000-79258400	Weak transcription	Fetal Intestine Small	intestine
36	chr4:79258000-79258800	Enhancers	Spleen	Spleen
37	chr4:79258000-79259000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:79258000-79261800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
40	chr4:79258200-79258400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:79258200-79258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:79258200-79258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:79258200-79258800	Enhancers	Fetal Kidney	kidney
44	chr4:79258200-79260800	Weak transcription	Right Atrium	heart
45	chr4:79258200-79261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:79258200-79262000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr4:79258200-79262600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:79258200-79263200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr4:79258200-79263400	Weak transcription	Fetal Stomach	stomach
50	chr4:79258200-79264400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links