Variant report

Variant	rs6793877
Chromosome Location	chr3:43687273-43687274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43680997..43684458-chr3:43685498..43690929,5	K562	blood:
2	chr3:43685158..43687784-chr3:43729150..43731026,2	MCF-7	breast:
3	chr3:43677468..43679447-chr3:43686132..43688397,3	K562	blood:
4	chr3:43686217..43687748-chr3:43696666..43699422,2	K562	blood:
5	chr3:43639176..43641072-chr3:43685550..43688004,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1021049	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1026887	1.00[JPT][hapmap]
rs1038202	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs10440111	0.81[ASN][1000 genomes]
rs11130006	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11706130	1.00[JPT][hapmap]
rs11714015	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs11718482	1.00[JPT][hapmap]
rs12152260	0.83[ASN][1000 genomes]
rs13084604	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs13092838	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs13098202	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs1482648	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs1482651	0.80[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[ASN][1000 genomes]
rs1482652	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs1482653	0.83[ASN][1000 genomes]
rs17030517	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17075971	0.85[CHD][hapmap]
rs17407870	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs17407912	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs2054554	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs2086653	0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2127725	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2170219	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2219902	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2372433	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs3755602	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs3772165	0.92[CEU][hapmap];0.80[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs3772167	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs3774790	0.90[CHB][hapmap];0.95[CHD][hapmap]
rs3774792	0.90[CHB][hapmap]
rs3821381	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs4234430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4325902	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4432612	0.89[CHD][hapmap]
rs4682690	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs4682691	0.80[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs4682892	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4682897	0.83[ASN][1000 genomes]
rs4682898	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4682900	0.90[CHB][hapmap];0.95[CHD][hapmap]
rs6441786	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6768557	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs6775337	1.00[JPT][hapmap]
rs6779864	0.83[ASN][1000 genomes]
rs6782442	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs6797855	1.00[JPT][hapmap]
rs6809134	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7616708	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs7621271	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs7630010	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7653738	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs9311340	0.85[CEU][hapmap]
rs9311341	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs9851894	0.84[AMR][1000 genomes];0.81[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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6793877	RPL14	cis	parietal	SCAN
rs6793877	MRPS18A	trans	cerebellum	SCAN
rs6793877	SNRK	cis	cerebellum	SCAN
rs6793877	FAM198A	cis	parietal	SCAN
rs6793877	ANO10	cis	Whole Blood	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43664200-43688400	Weak transcription	Aorta	Aorta
2	chr3:43680800-43687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:43680800-43688000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:43680800-43688800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:43680800-43691200	Weak transcription	Colonic Mucosa	Colon
6	chr3:43680800-43691200	Weak transcription	Placenta	Placenta
7	chr3:43681000-43688800	Weak transcription	A549	lung
8	chr3:43683600-43687600	Weak transcription	NHLF	lung
9	chr3:43683600-43687800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:43683600-43688800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:43683800-43687800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:43683800-43688200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:43683800-43688800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:43683800-43691000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:43683800-43691000	Weak transcription	Osteobl	bone
16	chr3:43684000-43688800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:43684400-43687400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:43685600-43689800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:43686400-43687800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:43686400-43690400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:43687200-43688600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:43687200-43690000	Enhancers	K562	blood

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