Variant report

Variant	rs550212
Chromosome Location	chr15:73621431-73621432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73619265..73621780-chr15:73623382..73625106,2	K562	blood:
2	chr15:73617280..73620267-chr15:73620708..73622245,2	K562	blood:
3	chr15:73620319..73622578-chr15:73631546..73634347,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1017809	0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs1029	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11853109	0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs1382780	0.94[AMR][1000 genomes]
rs1648248	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1678245	0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs1714529	0.83[YRI][hapmap];0.94[AMR][1000 genomes]
rs1714530	0.94[AMR][1000 genomes]
rs1714532	0.94[AMR][1000 genomes]
rs1812363	0.94[AMR][1000 genomes]
rs1842164	0.82[AMR][1000 genomes]
rs1895842	0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1979410	0.94[YRI][hapmap];0.82[AMR][1000 genomes]
rs2254390	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2254818	0.94[AMR][1000 genomes]
rs2623990	0.82[YRI][hapmap];0.94[AMR][1000 genomes]
rs2623994	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2623996	0.88[AMR][1000 genomes]
rs2624002	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2660823	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2680347	0.82[YRI][hapmap];0.94[AMR][1000 genomes]
rs2680348	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2680350	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2680351	0.94[AMR][1000 genomes]
rs28547177	0.82[AMR][1000 genomes]
rs28582318	0.82[AMR][1000 genomes]
rs490567	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs492448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs514632	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs524457	0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs533460	0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs576414	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7176908	0.82[AMR][1000 genomes]
rs8035717	0.82[AMR][1000 genomes]
rs899480	0.94[YRI][hapmap];0.82[AMR][1000 genomes]
rs9920152	0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs9920459	0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs9920675	0.82[YRI][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73598200-73622800	Weak transcription	Right Atrium	heart
2	chr15:73611400-73622200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:73612200-73623200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:73612400-73623000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:73615000-73622800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:73617200-73625800	Weak transcription	Fetal Intestine Small	intestine
7	chr15:73617400-73623200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:73617800-73634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:73618200-73622600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:73618600-73624600	Weak transcription	Spleen	Spleen
11	chr15:73618800-73621800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:73618800-73621800	Weak transcription	Fetal Heart	heart
13	chr15:73618800-73622600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:73618800-73622600	Weak transcription	Left Ventricle	heart
15	chr15:73620000-73622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:73620000-73622200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr15:73620000-73622200	Strong transcription	Brain Germinal Matrix	brain
18	chr15:73620200-73622000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:73620200-73622400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:73620400-73622000	Strong transcription	Right Ventricle	heart
21	chr15:73620400-73622200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:73620400-73622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:73620400-73623000	Strong transcription	Fetal Brain Female	brain
24	chr15:73620600-73622800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:73620800-73623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:73621000-73621600	Enhancers	Fetal Stomach	stomach
27	chr15:73621200-73622000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:73621200-73623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:73621200-73632600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:73621200-73634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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