Variant report

Variant	rs7228939
Chromosome Location	chr18:12404869-12404870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12404715..12407367-chr18:12656295..12657862,2	K562	blood:
2	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
3	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000251937	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1116261	1.00[EUR][1000 genomes]
rs1785314	1.00[EUR][1000 genomes]
rs28552823	1.00[EUR][1000 genomes]
rs28662344	1.00[EUR][1000 genomes]
rs34609495	1.00[EUR][1000 genomes]
rs544731	1.00[EUR][1000 genomes]
rs556661	1.00[EUR][1000 genomes]
rs559719	1.00[EUR][1000 genomes]
rs56079355	1.00[EUR][1000 genomes]
rs57692322	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58670524	1.00[EUR][1000 genomes]
rs58875261	1.00[EUR][1000 genomes]
rs73401973	1.00[EUR][1000 genomes]
rs73413050	1.00[EUR][1000 genomes]
rs8093092	1.00[EUR][1000 genomes]
rs8098094	1.00[EUR][1000 genomes]
rs9948060	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv978720	chr18:12395653-12408191	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:12402000-12405200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:12402400-12405200	Enhancers	NHEK	skin
4	chr18:12402600-12405400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:12402800-12405400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:12402800-12405400	Enhancers	HMEC	breast
7	chr18:12403600-12407400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:12404200-12405200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:12404200-12405200	Enhancers	NHDF-Ad	bronchial
10	chr18:12404200-12407600	Weak transcription	HSMM	muscle
11	chr18:12404400-12405000	Enhancers	A549	lung
12	chr18:12404400-12405200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:12404400-12406800	Weak transcription	NH-A	brain
14	chr18:12404400-12407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:12404400-12407400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:12404400-12407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:12404400-12407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:12404400-12407600	Weak transcription	NHLF	lung
19	chr18:12404600-12405000	Weak transcription	Osteobl	bone
20	chr18:12404800-12405200	Enhancers	HSMMtube	muscle

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