Variant report

Variant	rs385809
Chromosome Location	chr4:79278646-79278647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79277519..79279860-chr4:79280043..79282916,2	K562	blood:

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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	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]
rs345543	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs365657	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366463	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367885	0.86[ASN][1000 genomes]
rs368313	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370865	0.86[ASN][1000 genomes]
rs371716	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372736	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374822	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381503	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs385285	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs386832	0.86[ASN][1000 genomes]
rs387122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388825	0.86[ASN][1000 genomes]
rs395186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417621	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425699	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs427539	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429977	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431664	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs435317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs437057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386625	0.83[ASN][1000 genomes]
rs444500	0.86[ASN][1000 genomes]
rs445071	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445869	0.86[ASN][1000 genomes]
rs445963	0.86[ASN][1000 genomes]
rs448353	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs452319	0.86[ASN][1000 genomes]
rs454498	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs454551	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
2	chr4:79260800-79281000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:79263000-79282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:79263400-79283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:79263600-79281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:79266000-79280600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:79266400-79284400	Weak transcription	HepG2	liver
9	chr4:79268600-79283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:79268800-79280800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:79268800-79283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:79268800-79287400	Weak transcription	Pancreas	Pancrea
13	chr4:79269200-79281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:79275400-79281600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
16	chr4:79276000-79289800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:79277600-79282000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:79277800-79280600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:79277800-79280600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:79277800-79281000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:79277800-79281000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:79278400-79281800	Weak transcription	Brain Germinal Matrix	brain
23	chr4:79278600-79280600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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