Variant report

Variant	rs10801165
Chromosome Location	chr1:192910766-192910767
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	chr1:192908681..192912489-chr1:192913389..192917119,4	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10754036	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10921296	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921298	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921299	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921300	0.81[AMR][1000 genomes]
rs11507871	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11507872	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12117621	0.83[AMR][1000 genomes]
rs12117656	0.83[AMR][1000 genomes]
rs12118267	0.83[AMR][1000 genomes]
rs12125252	0.81[AMR][1000 genomes]
rs12125347	0.86[AMR][1000 genomes]
rs12132131	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12138298	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12143913	0.81[AMR][1000 genomes]
rs12531	1.00[CHD][hapmap]
rs1339591	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1339593	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1615218	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1769054	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1770915	1.00[CHD][hapmap]
rs1775687	1.00[CHD][hapmap]
rs2066216	0.99[EUR][1000 genomes]
rs2486496	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28461227	0.99[EUR][1000 genomes]
rs6428143	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680068	0.81[EUR][1000 genomes]
rs6701258	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs710140	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs710141	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738564	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72738565	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72738572	0.83[AMR][1000 genomes]
rs72738574	0.83[AMR][1000 genomes]
rs72738576	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738577	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738582	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7415619	0.81[AMR][1000 genomes]
rs7512163	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7512241	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7513985	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7523033	1.00[CHD][hapmap]
rs7547423	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842792	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842793	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842794	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842798	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842802	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842803	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842805	0.82[EUR][1000 genomes]
rs842812	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842815	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs844528	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9427824	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9427825	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs946557	0.93[AMR][1000 genomes];1.00[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10801165	B3GALT2	cis	cerebellum	SCAN
rs10801165	GLRX2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192900600-192918600	Weak transcription	Psoas Muscle	Psoas
2	chr1:192902000-192920800	Weak transcription	Aorta	Aorta
3	chr1:192903400-192912600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:192905600-192912200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:192908800-192921000	Weak transcription	NHEK	skin
6	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:192910400-192910800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:192910600-192911600	Enhancers	Primary B cells from peripheral blood	blood

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