Variant report

Variant	rs2867449
Chromosome Location	chr4:79422169-79422170
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	chr4:79416303..79418445-chr4:79420211..79422344,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10004305	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10033081	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1027447	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1027449	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13107007	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13118276	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13132231	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13141571	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13143325	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13435277	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1496585	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1496586	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1496587	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1496607	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17003289	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17003293	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17003294	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28361383	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28449192	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28473345	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28488385	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28545653	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28570979	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28651081	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2867447	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2867450	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2867451	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2867453	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2867454	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28704649	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28721400	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28725393	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28739412	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35150477	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35520641	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3749488	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3762843	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3792608	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55684284	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55744800	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59249633	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59857077	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60285643	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60520656	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310262	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310266	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310267	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62310269	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310270	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310271	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62310273	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310274	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62310275	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67201837	0.83[EUR][1000 genomes]
rs67217470	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67993554	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71611022	0.81[EUR][1000 genomes]
rs7696362	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9990780	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv10951	chr4:79421607-79431447	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
5	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
6	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
8	chr4:79402000-79427600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:79403200-79428000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:79403800-79428000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:79404000-79427200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:79404200-79450200	Weak transcription	HMEC	breast
14	chr4:79404400-79431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:79408600-79435000	Weak transcription	Fetal Heart	heart
16	chr4:79410200-79428000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:79410200-79443600	Weak transcription	HSMMtube	muscle
18	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:79410400-79428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:79410800-79439800	Weak transcription	Fetal Lung	lung
21	chr4:79411000-79428000	Weak transcription	Fetal Kidney	kidney
22	chr4:79411600-79428600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:79418000-79437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:79418200-79431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:79420200-79422200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:79420200-79423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79420400-79445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:79420600-79422200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:79420600-79422200	Strong transcription	HepG2	liver
30	chr4:79420800-79423000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:79421400-79422200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:79421600-79428000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:79421800-79445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:79422000-79426600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:79422000-79428000	Weak transcription	Fetal Intestine Large	intestine
36	chr4:79422000-79428400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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