Variant report

Variant	rs10798730
Chromosome Location	chr1:180094529-180094530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179849546..179851570-chr1:180093822..180096311,2	K562	blood:
2	chr1:179922333..179925402-chr1:180094478..180098472,3	K562	blood:
3	chr1:180067070..180070022-chr1:180093157..180094949,2	K562	blood:
4	chr1:180094467..180097034-chr1:180123312..180125749,2	K562	blood:

Variant related genes	Relation type
ENSG00000260360	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000116260	Chromatin interaction
ENSG00000135837	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10753206	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798729	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10798732	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913927	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10913931	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12027335	0.82[EUR][1000 genomes]
rs12040314	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12040376	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12080763	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477116	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2477120	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2501607	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2501610	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2501611	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2501615	0.82[EUR][1000 genomes]
rs2501616	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3767200	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3767202	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3818999	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3930305	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4076449	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4147169	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4256775	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4336810	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4506429	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4651054	0.83[EUR][1000 genomes]
rs4651057	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4652462	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4652463	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4652465	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4652470	0.82[EUR][1000 genomes]
rs4652471	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652472	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652473	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4652475	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6425603	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6425609	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657347	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6691060	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6691435	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7524849	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7525385	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7548486	0.82[EUR][1000 genomes]
rs7551181	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9286932	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425481	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9425482	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9425483	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9425485	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425486	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425489	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9425849	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9425851	0.86[EUR][1000 genomes]
rs9425854	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425855	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9425856	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9425860	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9425861	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9425863	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425866	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9425868	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180084000-180096000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:180086600-180100800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:180086600-180102400	Weak transcription	Pancreas	Pancrea
4	chr1:180087000-180097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:180087200-180095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:180087200-180095600	Weak transcription	Stomach Mucosa	stomach
7	chr1:180087200-180097000	Weak transcription	Lung	lung
8	chr1:180087200-180097400	Weak transcription	Esophagus	oesophagus
9	chr1:180089200-180097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:180089800-180095200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:180093000-180096200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180093200-180095400	Weak transcription	NHEK	skin
13	chr1:180093200-180095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:180093200-180095600	Weak transcription	K562	blood
15	chr1:180094000-180094800	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:180094400-180094600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:180094400-180095000	Enhancers	Placenta	Placenta

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