Variant report

Variant	rs1930633
Chromosome Location	chr1:170440043-170440044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170438931..170441760-chr1:170443458..170446041,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10157476	0.95[AFR][1000 genomes]
rs10733056	0.84[AFR][1000 genomes]
rs10753810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753811	0.95[AFR][1000 genomes]
rs10753814	0.81[AFR][1000 genomes]
rs10919393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919425	0.84[AFR][1000 genomes]
rs12116909	0.82[AFR][1000 genomes]
rs1333133	0.82[AFR][1000 genomes]
rs1333146	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333152	0.95[AFR][1000 genomes]
rs1333153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333155	0.82[AFR][1000 genomes]
rs1333156	0.82[AFR][1000 genomes]
rs1412891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412894	0.95[AFR][1000 genomes]
rs1412895	0.82[AFR][1000 genomes]
rs1537395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1537397	0.81[AFR][1000 genomes]
rs1572026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1572027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1576980	0.84[AFR][1000 genomes]
rs1831756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855221	0.82[AFR][1000 genomes]
rs1930634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2104918	0.83[AFR][1000 genomes]
rs2151333	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2225322	0.81[AFR][1000 genomes]
rs2901401	0.84[AFR][1000 genomes]
rs3936919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4319388	0.90[AFR][1000 genomes]
rs4402174	0.80[AFR][1000 genomes]
rs4411178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4436439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4469769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656769	0.81[AFR][1000 genomes]
rs4656771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656775	0.82[AFR][1000 genomes]
rs4656777	0.82[AFR][1000 genomes]
rs4656779	0.84[AFR][1000 genomes]
rs6427255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657164	0.80[AFR][1000 genomes]
rs6660575	0.85[AFR][1000 genomes]
rs6667867	0.82[AFR][1000 genomes]
rs6670724	0.84[AFR][1000 genomes]
rs6670882	0.87[AFR][1000 genomes]
rs6698637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538125	0.82[AFR][1000 genomes]
rs7548443	0.80[AFR][1000 genomes]
rs9651042	0.97[AFR][1000 genomes];1.00[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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170439400-170441400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:170439400-170441600	Enhancers	Osteobl	bone
3	chr1:170440000-170440200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:170440000-170440400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:170440000-170440800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:170440000-170441200	Enhancers	NHDF-Ad	bronchial
7	chr1:170440000-170441600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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