Variant report

Variant	rs331428
Chromosome Location	chr18:7807852-7807853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs179477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs331420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs331422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs331423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs331427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs407952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs414553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59893315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs616236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395417	1.00[AFR][1000 genomes];1.00[AMR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
2	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
3	chr18:7790600-7813400	Weak transcription	Fetal Thymus	thymus
4	chr18:7794400-7809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:7796000-7811600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:7798000-7809200	Weak transcription	Right Ventricle	heart
7	chr18:7800200-7812200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:7800600-7813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7802200-7809400	Weak transcription	Ovary	ovary
10	chr18:7804400-7809000	Weak transcription	Right Atrium	heart
11	chr18:7804400-7809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:7804400-7809400	Weak transcription	Gastric	stomach
13	chr18:7804400-7811200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:7804800-7808000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr18:7806000-7808200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr18:7806200-7809200	Weak transcription	Lung	lung
17	chr18:7806600-7808000	Enhancers	Fetal Brain Female	brain
18	chr18:7806600-7808600	Enhancers	Brain Anterior Caudate	brain
19	chr18:7806600-7810400	Enhancers	Psoas Muscle	Psoas
20	chr18:7806600-7813400	Enhancers	Fetal Heart	heart
21	chr18:7806800-7808600	Enhancers	Fetal Brain Male	brain
22	chr18:7807000-7811000	Weak transcription	Adipose Nuclei	Adipose
23	chr18:7807000-7811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:7807200-7808000	Weak transcription	Brain Germinal Matrix	brain
25	chr18:7807200-7811200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr18:7807400-7808000	Weak transcription	A549	lung
27	chr18:7807400-7808200	Weak transcription	Thymus	Thymus
28	chr18:7807400-7808400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:7807400-7811600	Weak transcription	HepG2	liver
30	chr18:7807600-7808600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:7807800-7808200	Weak transcription	Fetal Lung	lung
32	chr18:7807800-7808800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:7807800-7809200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7807800-7809200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:7807800-7810400	Enhancers	Left Ventricle	heart
36	chr18:7807800-7814000	Weak transcription	Fetal Stomach	stomach

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