Variant report

Variant	rs2867012
Chromosome Location	chr4:79172509-79172510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:79172476-79172778	A549	lung:	n/a	chr4:79172604-79172615
2	CEBPB	chr4:79172442-79172769	HepG2	liver:	n/a	chr4:79172604-79172615
3	CEBPB	chr4:79172431-79172735	IMR90	lung:	n/a	chr4:79172604-79172615

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10008653	0.82[ASN][1000 genomes]
rs10010118	0.99[ASN][1000 genomes]
rs10011303	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10015504	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10020592	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10023308	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023311	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10027981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10031070	0.80[EUR][1000 genomes]
rs1017649	0.84[ASN][1000 genomes]
rs10461146	0.85[ASN][1000 genomes]
rs10518197	0.82[EUR][1000 genomes]
rs11725497	0.84[EUR][1000 genomes]
rs11730296	0.94[ASN][1000 genomes]
rs11736213	1.00[ASN][1000 genomes]
rs11941469	0.83[EUR][1000 genomes]
rs12499728	0.89[AMR][1000 genomes]
rs12501798	0.83[ASN][1000 genomes]
rs12502139	0.84[ASN][1000 genomes]
rs12502685	0.82[ASN][1000 genomes]
rs12502886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504081	0.82[ASN][1000 genomes]
rs12506989	0.87[ASN][1000 genomes]
rs12510741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12511360	0.85[ASN][1000 genomes]
rs13107378	0.85[ASN][1000 genomes]
rs13108102	0.80[ASN][1000 genomes]
rs13115668	0.84[EUR][1000 genomes]
rs13117388	0.84[ASN][1000 genomes]
rs13136648	0.82[ASN][1000 genomes]
rs13138795	0.82[ASN][1000 genomes]
rs1378239	0.97[ASN][1000 genomes]
rs1454892	0.82[ASN][1000 genomes]
rs1454896	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1454897	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1454898	0.85[ASN][1000 genomes]
rs1470989	0.82[EUR][1000 genomes]
rs1484344	0.82[ASN][1000 genomes]
rs17455826	0.85[ASN][1000 genomes]
rs1840391	0.84[ASN][1000 genomes]
rs1840392	0.84[ASN][1000 genomes]
rs1869646	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1952399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1958276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008786	0.98[ASN][1000 genomes]
rs2124146	0.82[EUR][1000 genomes]
rs2168203	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2198635	0.84[ASN][1000 genomes]
rs28493765	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867011	0.82[EUR][1000 genomes]
rs28679752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28737438	0.82[ASN][1000 genomes]
rs34398622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs345502	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs345507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34595864	0.84[ASN][1000 genomes]
rs35291597	0.84[ASN][1000 genomes]
rs35419939	0.82[ASN][1000 genomes]
rs35683023	1.00[ASN][1000 genomes]
rs35828300	0.85[ASN][1000 genomes]
rs385693	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4241623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859524	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4859918	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859920	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859923	0.96[ASN][1000 genomes]
rs4859924	0.96[ASN][1000 genomes]
rs58101131	0.83[ASN][1000 genomes]
rs62309861	0.80[ASN][1000 genomes]
rs62310017	0.84[ASN][1000 genomes]
rs62310023	0.83[ASN][1000 genomes]
rs62310045	0.83[ASN][1000 genomes]
rs6533565	0.99[ASN][1000 genomes]
rs6533571	0.96[ASN][1000 genomes]
rs6815945	0.82[ASN][1000 genomes]
rs6833721	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6854043	0.99[ASN][1000 genomes]
rs6854207	0.80[ASN][1000 genomes]
rs6856362	0.84[ASN][1000 genomes]
rs72657047	0.81[ASN][1000 genomes]
rs7694740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7696792	0.96[ASN][1000 genomes]
rs7697230	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7698625	0.85[ASN][1000 genomes]
rs943821	0.82[ASN][1000 genomes]
rs943822	0.82[ASN][1000 genomes]
rs9762380	0.99[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79144200-79176000	Weak transcription	Psoas Muscle	Psoas
2	chr4:79144600-79179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79154400-79173600	Weak transcription	HepG2	liver
4	chr4:79163600-79173600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:79166000-79172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:79166400-79172600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:79166600-79173400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79167800-79176000	Weak transcription	Esophagus	oesophagus
9	chr4:79169200-79186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:79169200-79187400	Weak transcription	HSMMtube	muscle
11	chr4:79169400-79172800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:79169600-79173800	Weak transcription	Fetal Kidney	kidney
13	chr4:79169600-79174000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:79169600-79187800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:79169800-79172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:79169800-79172600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:79170200-79173400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:79170200-79174000	Weak transcription	Fetal Lung	lung
21	chr4:79170400-79172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:79170400-79186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:79170600-79176200	Weak transcription	Fetal Heart	heart
24	chr4:79170800-79176000	Weak transcription	Pancreas	Pancrea
25	chr4:79171200-79173400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:79171400-79173400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:79172000-79172800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:79172400-79174200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:79172400-79175400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr4:79172400-79175800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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