Variant report

Variant	rs684974
Chromosome Location	chr18:8138654-8138655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8127290..8130264-chr18:8136614..8139222,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs489590	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs512522	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs530290	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs557952	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs565798	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs577369	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585266	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591062	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591432	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs603243	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618381	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633126	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs644183	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs663105	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687245	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
2	chr18:8117400-8153200	Weak transcription	Liver	Liver
3	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
4	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
5	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
6	chr18:8125200-8141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:8125800-8138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:8125800-8139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:8126200-8139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:8126800-8153200	Weak transcription	A549	lung
11	chr18:8131200-8139200	Weak transcription	NHDF-Ad	bronchial
12	chr18:8133000-8144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:8133200-8141000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:8133400-8139200	Weak transcription	HSMM	muscle
15	chr18:8135800-8143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:8136200-8139200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:8136600-8139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8136800-8139200	Weak transcription	Fetal Lung	lung
19	chr18:8137200-8140200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:8137200-8141600	Enhancers	Left Ventricle	heart
21	chr18:8137400-8140400	Enhancers	Spleen	Spleen
22	chr18:8137400-8142600	Enhancers	Right Ventricle	heart
23	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
24	chr18:8137800-8139600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:8137800-8140400	Enhancers	K562	blood
26	chr18:8138000-8140400	Enhancers	Psoas Muscle	Psoas
27	chr18:8138200-8140400	Enhancers	Right Atrium	heart
28	chr18:8138200-8141200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:8138200-8142600	Enhancers	Ovary	ovary
30	chr18:8138400-8140200	Enhancers	Fetal Brain Male	brain
31	chr18:8138600-8139000	Enhancers	Pancreas	Pancrea
32	chr18:8138600-8139200	Enhancers	Adipose Nuclei	Adipose
33	chr18:8138600-8139600	Enhancers	Fetal Muscle Trunk	muscle
34	chr18:8138600-8139600	Enhancers	Lung	lung
35	chr18:8138600-8140200	Enhancers	Fetal Muscle Leg	muscle

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