Variant report

Variant	rs59478955
Chromosome Location	chr18:7812912-7812913
allele	C/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	POLR2A	chr18:7812730-7812948	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000264596	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11874030	1.00[EUR][1000 genomes]
rs11875998	1.00[EUR][1000 genomes]
rs1373180	1.00[EUR][1000 genomes]
rs1443606	1.00[EUR][1000 genomes]
rs16952586	1.00[EUR][1000 genomes]
rs2889681	1.00[EUR][1000 genomes]
rs331421	0.86[ASN][1000 genomes]
rs56166372	1.00[EUR][1000 genomes]
rs57881458	1.00[EUR][1000 genomes]
rs58012227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60568466	1.00[EUR][1000 genomes]
rs7244492	1.00[EUR][1000 genomes]
rs73393528	1.00[EUR][1000 genomes]
rs73393529	1.00[EUR][1000 genomes]
rs73393534	1.00[EUR][1000 genomes]
rs9948903	1.00[EUR][1000 genomes]
rs9950569	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7790600-7813400	Weak transcription	Fetal Thymus	thymus
2	chr18:7800600-7813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:7806600-7813400	Enhancers	Fetal Heart	heart
4	chr18:7807800-7814000	Weak transcription	Fetal Stomach	stomach
5	chr18:7808400-7813200	Weak transcription	Fetal Lung	lung
6	chr18:7809200-7813200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr18:7809400-7813000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:7809600-7813400	Weak transcription	Thymus	Thymus
9	chr18:7810200-7817600	Weak transcription	Ovary	ovary
10	chr18:7810200-7822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:7810200-7824200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:7810800-7813600	Enhancers	Left Ventricle	heart
13	chr18:7810800-7813800	Enhancers	Psoas Muscle	Psoas
14	chr18:7811000-7813400	Enhancers	Adipose Nuclei	Adipose
15	chr18:7811000-7813600	Enhancers	Right Ventricle	heart
16	chr18:7811200-7813000	Enhancers	Right Atrium	heart
17	chr18:7811200-7813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:7811200-7813200	Enhancers	Aorta	Aorta
19	chr18:7811200-7813200	Enhancers	Stomach Smooth Muscle	stomach
20	chr18:7811200-7813400	Enhancers	A549	lung
21	chr18:7811400-7814200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:7811600-7813000	Enhancers	Fetal Muscle Leg	muscle
23	chr18:7811600-7813200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:7811600-7813200	Enhancers	NHLF	lung
25	chr18:7811600-7813400	Enhancers	HepG2	liver
26	chr18:7811600-7813400	Enhancers	NHDF-Ad	bronchial
27	chr18:7811800-7813000	Enhancers	Hela-S3	cervix
28	chr18:7811800-7813200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:7812000-7813000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:7812000-7813200	Enhancers	NHEK	skin
31	chr18:7812000-7813400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr18:7812200-7813000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:7812200-7813000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:7812200-7813200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:7812200-7813200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr18:7812200-7813200	Enhancers	HMEC	breast
37	chr18:7812200-7813200	Enhancers	NH-A	brain
38	chr18:7812200-7813400	Enhancers	HSMMtube	muscle
39	chr18:7812400-7813000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:7812400-7813000	Enhancers	Placenta	Placenta
41	chr18:7812400-7813200	Enhancers	Pancreas	Pancrea
42	chr18:7812400-7813200	Enhancers	Rectal Smooth Muscle	rectum
43	chr18:7812600-7813000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:7812600-7813200	Enhancers	Brain Anterior Caudate	brain
45	chr18:7812600-7813200	Enhancers	HSMM	muscle
46	chr18:7812600-7813200	Enhancers	Osteobl	bone
47	chr18:7812600-7816400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:7812800-7813000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:7812800-7813000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr18:7812800-7813000	Enhancers	Spleen	Spleen

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