Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90228479..90231902-chr5:90233871..90236526,4	K562	blood:
2	chr5:90233883..90235980-chr5:90676996..90679311,2	MCF-7	breast:
3	chr5:90233758..90236433-chr5:90675781..90678446,3	K562	blood:
4	chr5:90233676..90235541-chr5:90674285..90677048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10035662	0.96[ASN][1000 genomes]
rs10052015	0.90[ASN][1000 genomes]
rs10052314	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10053303	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10060641	0.92[ASN][1000 genomes]
rs10078496	0.91[ASN][1000 genomes]
rs10474336	0.86[ASN][1000 genomes]
rs10514340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942620	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12054681	0.92[ASN][1000 genomes]
rs12055217	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513628	0.85[ASN][1000 genomes]
rs12515473	0.82[ASN][1000 genomes]
rs12515481	0.90[ASN][1000 genomes]
rs12520956	0.90[ASN][1000 genomes]
rs12522395	0.90[ASN][1000 genomes]
rs13355731	0.81[ASN][1000 genomes]
rs16869247	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17556421	0.96[ASN][1000 genomes]
rs4916698	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55977992	0.87[ASN][1000 genomes]
rs56908576	0.90[ASN][1000 genomes]
rs57954532	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58201771	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878896	0.89[ASN][1000 genomes]
rs73185149	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73185150	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7724016	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90225800-90236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:90228400-90239200	Weak transcription	Aorta	Aorta
4	chr5:90228600-90235000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:90229400-90235600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:90229800-90235000	Weak transcription	Fetal Kidney	kidney
7	chr5:90229800-90235800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:90229800-90235800	Weak transcription	Fetal Stomach	stomach
9	chr5:90230400-90265200	Weak transcription	K562	blood
10	chr5:90230800-90235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:90230800-90235800	Weak transcription	HepG2	liver
12	chr5:90231600-90250800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:90234400-90235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:90234600-90235000	Enhancers	GM12878-XiMat	blood
15	chr5:90234600-90236800	Enhancers	HUVEC	blood vessel
16	chr5:90234600-90237600	Enhancers	A549	lung

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