Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:58957924..58962385-chr2:58965001..58969543,8	K562	blood:
2	chr2:58957372..58959657-chr2:59024450..59026192,2	K562	blood:
3	chr2:58945242..58949329-chr2:58957340..58962879,5	K562	blood:
4	chr2:58931831..58935442-chr2:58958147..58960287,3	K562	blood:
5	chr2:58945540..58948530-chr2:58959428..58962203,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10490093	0.90[AMR][1000 genomes]
rs13421824	0.90[AMR][1000 genomes]
rs17549476	0.90[AMR][1000 genomes]
rs17549656	0.87[AMR][1000 genomes]
rs17549677	0.87[AMR][1000 genomes]
rs17549712	0.90[AMR][1000 genomes]
rs17549754	0.90[AMR][1000 genomes]
rs17549803	0.90[AMR][1000 genomes]
rs17550194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17550487	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17550550	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17550821	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17614872	0.90[AMR][1000 genomes]
rs17614895	0.90[AMR][1000 genomes]
rs17615036	0.82[AMR][1000 genomes]
rs17615120	0.87[AMR][1000 genomes]
rs17615185	0.90[AMR][1000 genomes]
rs17615279	0.90[AMR][1000 genomes]
rs17615309	0.90[AMR][1000 genomes]
rs17615381	0.90[AMR][1000 genomes]
rs17615638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950160	0.90[AMR][1000 genomes]
rs2204913	0.90[AMR][1000 genomes]
rs35026255	0.91[AMR][1000 genomes]
rs55645922	0.90[AMR][1000 genomes]
rs55745617	0.90[AMR][1000 genomes]
rs56174720	0.90[AMR][1000 genomes]
rs56266136	0.90[AMR][1000 genomes]
rs56365214	0.90[AMR][1000 genomes]
rs60018257	0.90[AMR][1000 genomes]
rs60888271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs993531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs993532	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv528866	chr2:58955953-58975143	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58948400-58960000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:58954600-58963200	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:58955000-58964400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:58958600-58959800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:58958800-58959800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:58958800-58960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:58958800-58961400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:58959000-58959800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:58959000-58960200	Enhancers	K562	blood
10	chr2:58959200-58959600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:58959200-58962800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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