Variant report

Variant	rs7552212
Chromosome Location	chr1:92936697-92936698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92934323..92938019-chr1:92941663..92943919,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1034219	0.87[CEU][hapmap]
rs10735779	0.88[CEU][hapmap]
rs10747411	0.83[EUR][1000 genomes]
rs10782838	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs10782922	0.88[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs10874656	0.84[EUR][1000 genomes]
rs11164605	0.84[EUR][1000 genomes]
rs11166568	0.81[EUR][1000 genomes]
rs11166575	0.81[EUR][1000 genomes]
rs1408916	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs1487537	0.81[EUR][1000 genomes]
rs1487539	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs1556562	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs1570836	0.83[EUR][1000 genomes]
rs1570837	0.87[CEU][hapmap]
rs17519833	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17579779	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886682	0.88[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs1886683	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1906279	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2025607	0.87[EUR][1000 genomes]
rs2031494	0.84[EUR][1000 genomes]
rs2046621	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2151577	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs2391140	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs2391159	0.83[EUR][1000 genomes]
rs2391160	0.80[EUR][1000 genomes]
rs3103177	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs4247165	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4375281	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs4568842	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs4847181	0.88[CEU][hapmap]
rs4847377	0.88[CEU][hapmap];0.88[TSI][hapmap]
rs4970696	0.83[EUR][1000 genomes]
rs4970698	0.83[EUR][1000 genomes]
rs4970701	0.80[EUR][1000 genomes]
rs4970705	0.83[EUR][1000 genomes]
rs4970706	0.83[EUR][1000 genomes]
rs4970708	0.80[EUR][1000 genomes]
rs4970709	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs4970710	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs4970712	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs59679370	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6422512	0.88[CEU][hapmap]
rs6603963	0.83[EUR][1000 genomes]
rs6603967	0.83[EUR][1000 genomes]
rs6603975	0.82[EUR][1000 genomes]
rs6603979	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs6603981	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs6603982	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs6603984	0.88[CEU][hapmap]
rs6603985	0.88[CEU][hapmap]
rs6603987	0.88[CEU][hapmap]
rs6603988	0.88[CEU][hapmap]
rs6603990	0.88[CEU][hapmap]
rs6604089	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs6604091	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs6658232	1.00[ASN][1000 genomes]
rs6661134	0.83[CEU][hapmap]
rs6668685	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs6676141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676846	0.83[EUR][1000 genomes]
rs6686702	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs6690764	0.83[EUR][1000 genomes]
rs6692060	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs6692187	0.88[CEU][hapmap];0.88[TSI][hapmap]
rs6696173	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7512301	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7515577	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs7518357	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520275	1.00[CHB][hapmap]
rs7536295	0.84[EUR][1000 genomes]
rs7542747	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7545445	0.81[EUR][1000 genomes]
rs912795	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs962221	0.83[EUR][1000 genomes]
rs962222	0.83[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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7552212	FAM69A,RPL5	cis	brain	BrainEAC

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92925600-92946000	Weak transcription	Right Atrium	heart
2	chr1:92929400-92940600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:92929600-92940800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:92930600-92939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:92930600-92939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:92930800-92944400	Weak transcription	Spleen	Spleen
7	chr1:92931000-92939000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:92931000-92939000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:92933000-92939600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:92933000-92939800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:92933200-92938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:92933400-92938600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:92933400-92939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:92933400-92939000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:92933400-92939000	Weak transcription	Thymus	Thymus
16	chr1:92933400-92941200	Weak transcription	Primary T cells from cord blood	blood
17	chr1:92933600-92939400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:92933600-92939600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:92933600-92939800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:92934600-92938200	Strong transcription	Fetal Thymus	thymus
21	chr1:92935000-92938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:92936000-92938000	Strong transcription	Dnd41	blood
23	chr1:92936400-92940600	Weak transcription	HepG2	liver
24	chr1:92936600-92940600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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