Variant report

Variant	rs60654462
Chromosome Location	chr5:126922485-126922486
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126909121..126910836-chr5:126921023..126922690,2	K562	blood:
2	chr5:126921099..126922896-chr5:126928083..126929899,2	K562	blood:
3	chr5:126917170..126920076-chr5:126921694..126924670,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs34236997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654285	1.00[ASN][1000 genomes]
rs55749092	1.00[ASN][1000 genomes]
rs57117879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58380010	1.00[ASN][1000 genomes]
rs60285859	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61220586	1.00[ASN][1000 genomes]
rs6875028	1.00[ASN][1000 genomes]
rs6893537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893881	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894854	1.00[ASN][1000 genomes]
rs6898899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783908	1.00[ASN][1000 genomes]
rs73783909	1.00[ASN][1000 genomes]
rs73783910	1.00[ASN][1000 genomes]
rs73783911	1.00[ASN][1000 genomes]
rs73783912	1.00[ASN][1000 genomes]
rs73783913	1.00[ASN][1000 genomes]
rs73783914	1.00[ASN][1000 genomes]
rs73783917	1.00[ASN][1000 genomes]
rs73783918	1.00[ASN][1000 genomes]
rs73783922	1.00[ASN][1000 genomes]
rs73783923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783924	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710290	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715074	1.00[ASN][1000 genomes]
rs7723932	1.00[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126921200-126922800	Flanking Active TSS	GM12878-XiMat	blood
2	chr5:126921200-126924400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:126921400-126936600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:126921600-126923200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:126921600-126925000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:126921600-126925000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:126922000-126923200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:126922000-126925000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:126922000-126925000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:126922200-126922800	Enhancers	Fetal Intestine Large	intestine
11	chr5:126922200-126925000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:126922200-126925200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:126922200-126925200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:126922200-126925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:126922200-126925600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:126922200-126939200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:126922400-126924800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:126922400-126925400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:126922400-126926200	Weak transcription	Colon Smooth Muscle	Colon

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