Variant report

Variant	rs4890686
Chromosome Location	chr18:44286895-44286896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11082551	1.00[JPT][hapmap]
rs11082553	0.82[ASN][1000 genomes]
rs11872518	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap]
rs11872859	0.92[JPT][hapmap]
rs12605659	1.00[JPT][hapmap]
rs2155987	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4402660	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4890687	0.84[ASN][1000 genomes]
rs71364560	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71364561	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71364562	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71364563	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7229344	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7232509	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8089484	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs8097565	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs948569	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs948570	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44273200-44288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44283800-44287600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr18:44284800-44287000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:44284800-44288600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr18:44285200-44287000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr18:44285200-44291600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr18:44285400-44287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:44285600-44287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:44285800-44290000	Weak transcription	Psoas Muscle	Psoas
11	chr18:44286000-44287000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:44286400-44287200	Enhancers	Brain Angular Gyrus	brain
13	chr18:44286400-44288000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr18:44286600-44287200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:44286600-44287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:44286600-44287200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:44286600-44287200	Enhancers	Fetal Heart	heart
18	chr18:44286600-44287600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:44286600-44288000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr18:44286600-44288400	Enhancers	Brain Germinal Matrix	brain
21	chr18:44286800-44287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:44286800-44287200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:44286800-44287400	Enhancers	NHLF	lung
24	chr18:44286800-44287600	Enhancers	HMEC	breast
25	chr18:44286800-44287800	Enhancers	NHDF-Ad	bronchial
26	chr18:44286800-44288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:44286800-44290600	Weak transcription	Left Ventricle	heart
28	chr18:44286800-44291600	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:44286800-44291600	Weak transcription	Brain Substantia Nigra	brain
30	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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