Variant report

Variant	rs454551
Chromosome Location	chr4:79261904-79261905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10008117	0.97[ASN][1000 genomes]
rs10010238	0.97[ASN][1000 genomes]
rs10015470	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10015547	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10016220	0.97[ASN][1000 genomes]
rs10018431	0.97[ASN][1000 genomes]
rs10030962	0.97[ASN][1000 genomes]
rs10032457	0.97[ASN][1000 genomes]
rs10155231	0.97[ASN][1000 genomes]
rs10155302	0.97[ASN][1000 genomes]
rs10155362	0.97[ASN][1000 genomes]
rs11098146	0.97[ASN][1000 genomes]
rs11098162	0.91[ASN][1000 genomes]
rs11721347	0.97[ASN][1000 genomes]
rs11721437	0.97[ASN][1000 genomes]
rs12641549	0.97[ASN][1000 genomes]
rs12642918	0.87[ASN][1000 genomes]
rs12643134	0.97[ASN][1000 genomes]
rs12643552	0.97[ASN][1000 genomes]
rs12647449	0.97[ASN][1000 genomes]
rs12650818	0.97[ASN][1000 genomes]
rs13114164	0.97[ASN][1000 genomes]
rs13114483	0.97[ASN][1000 genomes]
rs13123934	1.00[ASN][1000 genomes]
rs13124000	1.00[ASN][1000 genomes]
rs13131912	0.97[ASN][1000 genomes]
rs1454890	0.97[ASN][1000 genomes]
rs1454891	0.97[ASN][1000 genomes]
rs1484339	1.00[ASN][1000 genomes]
rs1484346	0.97[ASN][1000 genomes]
rs1484347	0.97[ASN][1000 genomes]
rs1484348	0.97[ASN][1000 genomes]
rs17003131	0.85[ASN][1000 genomes]
rs17003164	0.97[ASN][1000 genomes]
rs1973256	1.00[ASN][1000 genomes]
rs2008453	0.97[ASN][1000 genomes]
rs28623348	0.97[ASN][1000 genomes]
rs28645909	0.97[ASN][1000 genomes]
rs28654799	0.91[ASN][1000 genomes]
rs28685810	0.97[ASN][1000 genomes]
rs28756791	0.97[ASN][1000 genomes]
rs28826318	0.97[ASN][1000 genomes]
rs28861485	0.97[ASN][1000 genomes]
rs28868898	0.97[ASN][1000 genomes]
rs28871899	0.97[ASN][1000 genomes]
rs28891759	0.97[ASN][1000 genomes]
rs34141392	0.97[ASN][1000 genomes]
rs34193629	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs34204048	0.97[ASN][1000 genomes]
rs345543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34568699	0.97[ASN][1000 genomes]
rs35050841	0.97[ASN][1000 genomes]
rs35514354	0.97[ASN][1000 genomes]
rs35610069	0.97[ASN][1000 genomes]
rs365543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365657	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367885	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs368313	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370865	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs371716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs372736	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs374822	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376200	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs380076	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs381503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385809	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs386832	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs387122	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs388825	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs395186	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs402843	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs408224	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs408835	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs409061	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs410769	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs412797	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs415472	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs417621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423638	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs425699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427539	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431664	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435317	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437057	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4386625	0.85[ASN][1000 genomes]
rs444500	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs445071	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445869	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs445963	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs448353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452319	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs454498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569894	0.97[ASN][1000 genomes]
rs58220389	0.97[ASN][1000 genomes]
rs62309936	0.97[ASN][1000 genomes]
rs672608	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71611019	0.97[ASN][1000 genomes]
rs72866338	0.85[ASN][1000 genomes]
rs72866340	0.85[ASN][1000 genomes]
rs72866341	0.85[ASN][1000 genomes]
rs72866344	0.85[ASN][1000 genomes]
rs72866347	0.85[ASN][1000 genomes]
rs72866348	0.85[ASN][1000 genomes]
rs72866349	0.88[ASN][1000 genomes]
rs7656232	0.97[ASN][1000 genomes]
rs7693638	0.85[ASN][1000 genomes]
rs7697470	0.97[ASN][1000 genomes]
rs7698873	0.97[ASN][1000 genomes]
rs9307386	0.97[ASN][1000 genomes]
rs9991478	0.97[ASN][1000 genomes]
rs9997865	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv508290	chr4:79259152-79277975	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 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	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
5	chr4:79253800-79264800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:79256400-79265200	Strong transcription	HepG2	liver
7	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
8	chr4:79258200-79262000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:79258200-79262600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:79258200-79263200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr4:79258200-79263400	Weak transcription	Fetal Stomach	stomach
12	chr4:79258200-79264400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:79258400-79263000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:79258400-79265800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:79258400-79268600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:79258400-79268600	Weak transcription	Fetal Brain Male	brain
17	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
19	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
20	chr4:79259000-79262200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:79259000-79262800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:79259000-79263000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:79259000-79263800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:79259000-79268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:79259200-79262400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:79259200-79275400	Weak transcription	Brain Germinal Matrix	brain
27	chr4:79259600-79262600	Weak transcription	Fetal Heart	heart
28	chr4:79259600-79262800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr4:79260800-79281000	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79261000-79275200	Weak transcription	Fetal Intestine Large	intestine
31	chr4:79261400-79262400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:79261400-79262800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:79261800-79262000	ZNF genes & repeats	Aorta	Aorta
35	chr4:79261800-79263400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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