Variant report

Variant	rs8084284
Chromosome Location	chr18:12286987-12286988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr18:12286977-12287872	H1-hESC	embryonic stem cell:	n/a	chr18:12287617-12287626 chr18:12287387-12287399
2	POLR2A	chr18:12286987-12289319	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12284795..12287188-chr18:12289941..12291759,2	K562	blood:
2	chr18:12285413..12287780-chr18:12306956..12309734,2	K562	blood:
3	chr18:12282475..12288140-chr18:12305542..12311210,9	K562	blood:
4	chr18:12285640..12287691-chr18:12304617..12306840,2	MCF-7	breast:
5	chr18:12284886..12287018-chr18:12289577..12291293,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267069	TF binding region
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11662978	0.84[AFR][1000 genomes]
rs4797667	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4797668	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7505097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12279600-12287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:12280000-12287400	Weak transcription	Right Atrium	heart
3	chr18:12280000-12287800	Weak transcription	Ovary	ovary
4	chr18:12280400-12287400	Weak transcription	Adipose Nuclei	Adipose
5	chr18:12280400-12287600	Weak transcription	Aorta	Aorta
6	chr18:12280400-12287600	Weak transcription	Lung	lung
7	chr18:12281800-12287000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:12281800-12287400	Weak transcription	Left Ventricle	heart
9	chr18:12283000-12287000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:12283000-12287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:12283000-12287200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:12283000-12287200	Weak transcription	Right Ventricle	heart
13	chr18:12283000-12287200	Weak transcription	Hela-S3	cervix
14	chr18:12283200-12287200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:12283200-12287200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:12283200-12287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:12283200-12287400	Weak transcription	Osteobl	bone
18	chr18:12283200-12287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:12283400-12287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:12283400-12287000	Weak transcription	HMEC	breast
21	chr18:12283400-12287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:12283400-12287200	Weak transcription	NH-A	brain
23	chr18:12283600-12287000	Weak transcription	HSMM	muscle
24	chr18:12283600-12287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:12283600-12287400	Weak transcription	NHDF-Ad	bronchial
26	chr18:12284000-12287000	Weak transcription	NHEK	skin
27	chr18:12284000-12287200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:12284000-12287400	Weak transcription	HUVEC	blood vessel
29	chr18:12284000-12287400	Weak transcription	NHLF	lung
30	chr18:12284200-12287200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr18:12284400-12287200	Weak transcription	Fetal Heart	heart
32	chr18:12284600-12287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:12284800-12287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:12284800-12287200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:12284800-12287800	Weak transcription	K562	blood
36	chr18:12286400-12287200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:12286600-12287000	Weak transcription	HSMMtube	muscle
38	chr18:12286800-12287600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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