Variant report

Variant	rs345543
Chromosome Location	chr4:79283872-79283873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10008117	0.94[ASN][1000 genomes]
rs10010238	0.94[ASN][1000 genomes]
rs10015470	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015547	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016220	0.94[ASN][1000 genomes]
rs10018431	0.94[ASN][1000 genomes]
rs10030962	0.94[ASN][1000 genomes]
rs10032457	1.00[ASN][1000 genomes]
rs10155231	0.94[ASN][1000 genomes]
rs10155302	0.94[ASN][1000 genomes]
rs10155362	0.94[ASN][1000 genomes]
rs11098146	1.00[ASN][1000 genomes]
rs11098162	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11721347	0.94[ASN][1000 genomes]
rs11721437	0.94[ASN][1000 genomes]
rs12641549	0.94[ASN][1000 genomes]
rs12642918	0.90[ASN][1000 genomes]
rs12643134	1.00[ASN][1000 genomes]
rs12643552	0.94[ASN][1000 genomes]
rs12647449	0.94[ASN][1000 genomes]
rs12650818	0.94[ASN][1000 genomes]
rs13114164	1.00[ASN][1000 genomes]
rs13114483	0.94[ASN][1000 genomes]
rs13123934	0.97[ASN][1000 genomes]
rs13124000	0.97[ASN][1000 genomes]
rs13131912	0.94[ASN][1000 genomes]
rs1454890	1.00[ASN][1000 genomes]
rs1454891	1.00[ASN][1000 genomes]
rs1484339	0.97[ASN][1000 genomes]
rs1484346	0.94[ASN][1000 genomes]
rs1484347	0.94[ASN][1000 genomes]
rs1484348	0.94[ASN][1000 genomes]
rs17003131	0.83[ASN][1000 genomes]
rs17003164	1.00[ASN][1000 genomes]
rs1973256	0.97[ASN][1000 genomes]
rs2008453	1.00[ASN][1000 genomes]
rs28623348	1.00[ASN][1000 genomes]
rs28645909	0.94[ASN][1000 genomes]
rs28654799	0.89[ASN][1000 genomes]
rs28685810	0.94[ASN][1000 genomes]
rs28756791	0.94[ASN][1000 genomes]
rs28826318	0.94[ASN][1000 genomes]
rs28861485	0.94[ASN][1000 genomes]
rs28868898	0.94[ASN][1000 genomes]
rs28871899	0.94[ASN][1000 genomes]
rs28891759	0.94[ASN][1000 genomes]
rs34141392	0.94[ASN][1000 genomes]
rs34193629	0.86[ASN][1000 genomes]
rs34204048	0.94[ASN][1000 genomes]
rs34568699	0.94[ASN][1000 genomes]
rs35050841	0.94[ASN][1000 genomes]
rs35514354	0.94[ASN][1000 genomes]
rs35610069	0.94[ASN][1000 genomes]
rs365543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs365657	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366463	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367885	0.86[ASN][1000 genomes]
rs368313	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370865	0.86[ASN][1000 genomes]
rs371716	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374822	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376200	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380076	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381503	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs385285	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs385809	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386832	0.86[ASN][1000 genomes]
rs387122	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388825	0.86[ASN][1000 genomes]
rs395186	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402843	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408224	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408835	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409061	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410769	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412797	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415472	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417621	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423638	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs427539	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429977	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431664	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs435317	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs437057	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386625	0.83[ASN][1000 genomes]
rs444500	0.86[ASN][1000 genomes]
rs445071	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445869	0.86[ASN][1000 genomes]
rs445963	0.86[ASN][1000 genomes]
rs448353	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs452319	0.86[ASN][1000 genomes]
rs454498	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs454551	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs569894	0.94[ASN][1000 genomes]
rs58220389	0.94[ASN][1000 genomes]
rs62309936	0.94[ASN][1000 genomes]
rs672608	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71611019	0.94[ASN][1000 genomes]
rs72866338	0.83[ASN][1000 genomes]
rs72866340	0.83[ASN][1000 genomes]
rs72866341	0.83[ASN][1000 genomes]
rs72866344	0.83[ASN][1000 genomes]
rs72866347	0.83[ASN][1000 genomes]
rs72866348	0.83[ASN][1000 genomes]
rs72866349	0.86[ASN][1000 genomes]
rs7656232	0.94[ASN][1000 genomes]
rs7693638	0.83[ASN][1000 genomes]
rs7697470	0.94[ASN][1000 genomes]
rs7698873	0.94[ASN][1000 genomes]
rs9307386	0.94[ASN][1000 genomes]
rs9991478	0.94[ASN][1000 genomes]
rs9997865	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
2	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:79266400-79284400	Weak transcription	HepG2	liver
4	chr4:79268800-79287400	Weak transcription	Pancreas	Pancrea
5	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
6	chr4:79276000-79289800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:79280600-79284000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:79280600-79284400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:79281000-79284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:79281000-79284400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:79281000-79284600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:79281200-79284000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:79281600-79285200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:79281800-79284600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:79282400-79284000	Weak transcription	Fetal Intestine Large	intestine
16	chr4:79282400-79292800	Weak transcription	Psoas Muscle	Psoas
17	chr4:79282800-79295000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:79283000-79291600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:79283200-79284600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:79283200-79290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:79283400-79284400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:79283400-79284800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:79283600-79284000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:79283600-79292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:79283600-79292800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:79283800-79284400	Enhancers	Fetal Intestine Small	intestine
27	chr4:79283800-79284400	Weak transcription	Left Ventricle	heart
28	chr4:79283800-79284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:79283800-79284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:79283800-79284600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:79283800-79284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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