Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:147005432..147007989-chr5:147101707..147104266,2	MCF-7	breast:
2	chr5:147099945..147101647-chr5:147104037..147106360,3	MCF-7	breast:
3	chr5:147103170..147104982-chr5:147106913..147109194,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11739236	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11745685	0.85[EUR][1000 genomes]
rs11748881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11950996	0.86[EUR][1000 genomes]
rs12653715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12655012	0.82[EUR][1000 genomes]
rs12657336	0.85[EUR][1000 genomes]
rs13353961	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1344786	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17107220	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17107227	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17107228	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17717032	0.80[EUR][1000 genomes]
rs2082401	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3734122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4312870	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57882722	0.85[EUR][1000 genomes]
rs59853509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61500793	0.85[EUR][1000 genomes]
rs68048232	0.97[EUR][1000 genomes]
rs6866266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873493	0.85[EUR][1000 genomes]
rs73271933	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73271934	0.84[AMR][1000 genomes];0.81[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	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
2	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147101000-147106200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:147101600-147114400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:147101800-147105000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:147101800-147109800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:147102000-147105600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:147102000-147109400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:147102000-147109600	Weak transcription	Brain Germinal Matrix	brain
9	chr5:147102000-147111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:147102000-147112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:147102200-147114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:147102600-147111600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:147103600-147110400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:147103600-147110400	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:147103600-147111600	Weak transcription	Fetal Brain Female	brain
16	chr5:147103600-147121800	Weak transcription	Fetal Brain Male	brain

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