Variant report

Variant	rs4798712
Chromosome Location	chr18:8890011-8890012
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8888492..8890342-chr18:8891672..8893412,2	K562	blood:
2	chr18:8889720..8892618-chr18:8911073..8912769,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1108112	1.00[AFR][1000 genomes]
rs17408774	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17486397	1.00[AFR][1000 genomes]
rs4133048	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4420597	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797335	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797336	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797337	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797338	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4797349	1.00[AFR][1000 genomes]
rs4798694	1.00[AFR][1000 genomes]
rs4798695	1.00[AFR][1000 genomes]
rs4798698	0.89[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4798699	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798714	1.00[EUR][1000 genomes]
rs4798715	1.00[AFR][1000 genomes];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:33 , 50 per page) page: 1

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

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