Variant report

Variant	rs7654909
Chromosome Location	chr4:152967730-152967731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152966128..152968026-chr4:152970722..152972855,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10025575	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10032875	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11933363	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12332066	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12651619	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12651644	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13102186	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425397	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1559694	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17028501	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1991224	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696124	0.81[AMR][1000 genomes]
rs4696127	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4696312	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62318965	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6535832	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6535833	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6829751	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6842274	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7655280	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7655455	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7656880	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7673034	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7673072	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7678563	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7682340	0.81[AMR][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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	chr4:152966600-152967800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr4:152966600-152969400	Enhancers	Fetal Heart	heart
3	chr4:152966600-152969800	Enhancers	HSMMtube	muscle
4	chr4:152966800-152967800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:152967000-152967800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:152967200-152968200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:152967200-152973400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:152967400-152967800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:152967400-152967800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:152967400-152967800	Flanking Active TSS	Hela-S3	cervix
11	chr4:152967400-152968200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:152967400-152969000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:152967400-152970000	Enhancers	Fetal Thymus	thymus
14	chr4:152967600-152967800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:152967600-152967800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:152967600-152967800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:152967600-152967800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:152967600-152967800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:152967600-152967800	Enhancers	Placenta	Placenta
20	chr4:152967600-152967800	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:152967600-152968000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:152967600-152968200	Enhancers	Brain Germinal Matrix	brain
23	chr4:152967600-152968400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:152967600-152968600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:152967600-152968600	Weak transcription	Ovary	ovary
26	chr4:152967600-152968800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:152967600-152969000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:152967600-152972000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:152967600-152973200	Weak transcription	Thymus	Thymus
30	chr4:152967600-152974600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:152967600-152977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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