Variant report

Variant	rs397449
Chromosome Location	chr4:79259117-79259118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17459809	0.96[EUR][1000 genomes]
rs1840388	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs370252	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs370865	1.00[EUR][1000 genomes]
rs371923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs373144	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs376809	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs381765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs386832	1.00[EUR][1000 genomes]
rs395192	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs396790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs397439	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs405190	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs410660	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs417796	0.96[EUR][1000 genomes]
rs420238	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs423884	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs431812	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs438511	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs441064	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs446773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454649	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4569782	0.96[EUR][1000 genomes]
rs644235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs737397	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931277	1.00[EUR][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:44 , 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	chr4:79253800-79264800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:79254600-79261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:79256400-79259600	Enhancers	Fetal Heart	heart
9	chr4:79256400-79265200	Strong transcription	HepG2	liver
10	chr4:79256600-79261800	Weak transcription	Aorta	Aorta
11	chr4:79257400-79259200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:79257600-79259200	Enhancers	Brain Germinal Matrix	brain
13	chr4:79257800-79259200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:79258000-79261800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
16	chr4:79258200-79260800	Weak transcription	Right Atrium	heart
17	chr4:79258200-79261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:79258200-79262000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:79258200-79262600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:79258200-79263200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr4:79258200-79263400	Weak transcription	Fetal Stomach	stomach
22	chr4:79258200-79264400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:79258400-79259800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:79258400-79260800	Strong transcription	Fetal Intestine Small	intestine
25	chr4:79258400-79263000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:79258400-79265800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:79258400-79268600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:79258400-79268600	Weak transcription	Fetal Brain Male	brain
29	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:79258600-79260600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
32	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
33	chr4:79259000-79259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:79259000-79259400	Weak transcription	HSMMtube	muscle
35	chr4:79259000-79259600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:79259000-79259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:79259000-79259800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:79259000-79260000	Weak transcription	Placenta	Placenta
39	chr4:79259000-79261000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:79259000-79262200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:79259000-79262800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:79259000-79263000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:79259000-79263800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:79259000-79268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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