Variant report

Variant	rs72866341
Chromosome Location	chr4:79249576-79249577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79248060..79250644-chr4:79254007..79255796,2	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	0.88[ASN][1000 genomes]
rs10010238	0.89[ASN][1000 genomes]
rs10015470	0.83[ASN][1000 genomes]
rs10015547	0.83[ASN][1000 genomes]
rs10016220	0.88[ASN][1000 genomes]
rs10018431	0.88[ASN][1000 genomes]
rs10030962	0.88[ASN][1000 genomes]
rs10032457	0.83[ASN][1000 genomes]
rs10155231	0.88[ASN][1000 genomes]
rs10155302	0.88[ASN][1000 genomes]
rs10155362	0.88[ASN][1000 genomes]
rs11098146	0.83[ASN][1000 genomes]
rs11098162	0.82[ASN][1000 genomes]
rs11721347	0.88[ASN][1000 genomes]
rs11721437	0.88[ASN][1000 genomes]
rs12641549	0.88[ASN][1000 genomes]
rs12643134	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12643552	0.88[ASN][1000 genomes]
rs12647449	0.88[ASN][1000 genomes]
rs12650818	0.88[ASN][1000 genomes]
rs13114164	0.83[ASN][1000 genomes]
rs13114483	0.88[ASN][1000 genomes]
rs13123934	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13124000	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13131912	0.88[ASN][1000 genomes]
rs1454890	0.83[ASN][1000 genomes]
rs1454891	0.83[ASN][1000 genomes]
rs1484339	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1484346	0.88[ASN][1000 genomes]
rs1484347	0.88[ASN][1000 genomes]
rs1484348	0.88[ASN][1000 genomes]
rs17003131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17003164	0.83[ASN][1000 genomes]
rs1973256	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2004557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2008453	0.83[ASN][1000 genomes]
rs28623348	0.83[ASN][1000 genomes]
rs28645909	0.88[ASN][1000 genomes]
rs28654799	0.82[ASN][1000 genomes]
rs28685810	0.88[ASN][1000 genomes]
rs28756791	0.88[ASN][1000 genomes]
rs28826318	0.88[ASN][1000 genomes]
rs28861485	0.88[ASN][1000 genomes]
rs28868898	0.88[ASN][1000 genomes]
rs28871899	0.88[ASN][1000 genomes]
rs28891759	0.88[ASN][1000 genomes]
rs34141392	0.88[ASN][1000 genomes]
rs34193629	0.97[ASN][1000 genomes]
rs34204048	0.88[ASN][1000 genomes]
rs345543	0.83[ASN][1000 genomes]
rs34568699	0.88[ASN][1000 genomes]
rs35050841	0.88[ASN][1000 genomes]
rs35514354	0.88[ASN][1000 genomes]
rs35610069	0.88[ASN][1000 genomes]
rs365543	0.85[ASN][1000 genomes]
rs365657	0.83[ASN][1000 genomes]
rs366463	0.85[ASN][1000 genomes]
rs367885	0.97[ASN][1000 genomes]
rs368313	0.83[ASN][1000 genomes]
rs370865	0.97[ASN][1000 genomes]
rs371716	0.89[ASN][1000 genomes]
rs372736	0.83[ASN][1000 genomes]
rs374822	0.85[ASN][1000 genomes]
rs376200	0.83[ASN][1000 genomes]
rs380076	0.83[ASN][1000 genomes]
rs381503	0.85[ASN][1000 genomes]
rs385285	0.85[ASN][1000 genomes]
rs385809	0.83[ASN][1000 genomes]
rs386832	0.97[ASN][1000 genomes]
rs387122	0.83[ASN][1000 genomes]
rs388825	0.97[ASN][1000 genomes]
rs395186	0.83[ASN][1000 genomes]
rs402843	0.83[ASN][1000 genomes]
rs408224	0.83[ASN][1000 genomes]
rs408835	0.83[ASN][1000 genomes]
rs409061	0.83[ASN][1000 genomes]
rs410769	0.83[ASN][1000 genomes]
rs412797	0.83[ASN][1000 genomes]
rs415472	0.83[ASN][1000 genomes]
rs417621	0.85[ASN][1000 genomes]
rs423638	0.83[ASN][1000 genomes]
rs425699	0.85[ASN][1000 genomes]
rs427539	0.85[ASN][1000 genomes]
rs429977	0.85[ASN][1000 genomes]
rs431664	0.85[ASN][1000 genomes]
rs435317	0.85[ASN][1000 genomes]
rs437057	0.83[ASN][1000 genomes]
rs4386625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs444500	0.97[ASN][1000 genomes]
rs445071	0.83[ASN][1000 genomes]
rs445869	0.97[ASN][1000 genomes]
rs445963	0.97[ASN][1000 genomes]
rs448353	0.85[ASN][1000 genomes]
rs452319	0.97[ASN][1000 genomes]
rs454498	0.85[ASN][1000 genomes]
rs454551	0.85[ASN][1000 genomes]
rs569894	0.89[ASN][1000 genomes]
rs58220389	0.88[ASN][1000 genomes]
rs62309936	0.88[ASN][1000 genomes]
rs672608	0.83[ASN][1000 genomes]
rs71611019	0.88[ASN][1000 genomes]
rs72866338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72866340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72866344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72866346	0.94[ASN][1000 genomes]
rs72866347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72866348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72866349	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7656232	0.88[ASN][1000 genomes]
rs7697470	0.88[ASN][1000 genomes]
rs7698873	0.88[ASN][1000 genomes]
rs9307386	0.88[ASN][1000 genomes]
rs9991478	0.88[ASN][1000 genomes]
rs9997865	0.88[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	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

No data

Chromatin state (count:29 , 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	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
3	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
4	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:79237800-79252800	Weak transcription	Fetal Kidney	kidney
7	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
9	chr4:79240600-79252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:79241200-79250200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79241400-79252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:79241600-79252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:79241600-79252400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:79241600-79257600	Weak transcription	Left Ventricle	heart
15	chr4:79241800-79256400	Weak transcription	HepG2	liver
16	chr4:79245000-79250600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:79245000-79252400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79245000-79252800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:79247000-79251600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:79247200-79250000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:79247400-79250400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:79247400-79257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:79247400-79257600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:79247600-79254400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:79248000-79250400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:79248400-79252000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79248800-79252400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:79249200-79250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:79249400-79252400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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