Variant report

Variant	rs6895952
Chromosome Location	chr5:147101301-147101302
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147099945..147101647-chr5:147104037..147106360,3	MCF-7	breast:
2	chr5:147084806..147087752-chr5:147100752..147102647,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10477342	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11167996	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12653862	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12659905	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13172946	1.00[AFR][1000 genomes]
rs1549912	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17495305	1.00[AFR][1000 genomes]
rs17496036	1.00[AFR][1000 genomes]
rs17496399	1.00[AFR][1000 genomes]
rs17496550	1.00[AFR][1000 genomes]
rs17497229	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17497858	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17497914	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17498180	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17561784	1.00[AFR][1000 genomes]
rs17562343	1.00[AFR][1000 genomes]
rs17563332	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17563872	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17624756	0.87[EUR][1000 genomes]
rs17703007	0.89[EUR][1000 genomes]
rs2053050	1.00[AFR][1000 genomes]
rs2053052	1.00[AFR][1000 genomes]
rs2116770	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28469761	0.89[EUR][1000 genomes]
rs35130412	1.00[AFR][1000 genomes]
rs35285805	1.00[AFR][1000 genomes]
rs4593256	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705042	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705189	1.00[AFR][1000 genomes]
rs4705190	1.00[AFR][1000 genomes]
rs6873548	0.81[EUR][1000 genomes]
rs71580441	1.00[AFR][1000 genomes]
rs72835149	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7735973	0.89[EUR][1000 genomes]
rs9686888	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3444248	chr5:147094808-147116217	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6895952	JAKMIP2	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147101000-147101600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:147101000-147106200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:147101200-147101600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:147101200-147101600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:147101200-147101600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:147101200-147101600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:147101200-147101600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:147101200-147101800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:147101200-147101800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:147101200-147101800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr5:147101200-147101800	Active TSS	Placenta	Placenta
13	chr5:147101200-147102000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr5:147101200-147102000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:147101200-147102200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:147101200-147102200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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