Variant report

Variant	rs4798713
Chromosome Location	chr18:8890501-8890502
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	chr18:8889720..8892618-chr18:8911073..8912769,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17408774	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4133048	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4420597	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797335	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797336	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797337	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797338	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798698	0.96[AMR][1000 genomes]
rs4798699	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798714	1.00[EUR][1000 genomes]
rs4798715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8889400-8890600	Enhancers	A549	lung
2	chr18:8889400-8891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:8889400-8891800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8889400-8891800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:8889400-8892200	Enhancers	Osteobl	bone
6	chr18:8889400-8892400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr18:8889400-8892600	Enhancers	NHDF-Ad	bronchial
8	chr18:8889600-8890800	Enhancers	K562	blood
9	chr18:8889600-8891800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr18:8889600-8891800	Enhancers	HMEC	breast
11	chr18:8889600-8891800	Enhancers	NHEK	skin
12	chr18:8889800-8890800	Enhancers	Hela-S3	cervix
13	chr18:8889800-8891600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:8889800-8891600	Enhancers	Placenta	Placenta
15	chr18:8889800-8891800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:8889800-8891800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:8889800-8892000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:8889800-8892000	Enhancers	HUVEC	blood vessel
19	chr18:8890000-8890800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr18:8890000-8891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:8890000-8891200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:8890000-8891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:8890000-8891200	Weak transcription	Pancreas	Pancrea
24	chr18:8890000-8891600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:8890200-8890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:8890200-8890600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:8890200-8890800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr18:8890200-8891200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:8890200-8891200	Weak transcription	HSMM	muscle
30	chr18:8890200-8891200	Weak transcription	HSMMtube	muscle
31	chr18:8890200-8891200	Enhancers	NH-A	brain
32	chr18:8890200-8891200	Weak transcription	NHLF	lung
33	chr18:8890200-8891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:8890400-8890800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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