Variant report

Variant	rs7189623
Chromosome Location	chr16:65149118-65149119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11861237	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1402018	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17432264	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17432731	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17510660	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17510891	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4967870	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56706484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58793156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58833221	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7187376	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7188625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7189108	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7404236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970281	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][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	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:65140400-65150200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:65141200-65150000	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:65141200-65150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:65141400-65149400	Weak transcription	Fetal Intestine Small	intestine
7	chr16:65142200-65149800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:65144400-65150800	Genic enhancers	Fetal Lung	lung
9	chr16:65144600-65153000	Weak transcription	Placenta	Placenta
10	chr16:65144600-65154000	Weak transcription	Spleen	Spleen
11	chr16:65146000-65150600	Strong transcription	HSMM	muscle
12	chr16:65147200-65150000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:65147200-65151800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:65147400-65149200	Enhancers	Brain Cingulate Gyrus	brain
15	chr16:65147400-65150400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:65147400-65150400	Strong transcription	HSMMtube	muscle
17	chr16:65147400-65150600	Enhancers	Brain Hippocampus Middle	brain
18	chr16:65147400-65152800	Genic enhancers	Fetal Stomach	stomach
19	chr16:65147600-65150200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:65147600-65150200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:65148000-65151600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:65148200-65149400	Enhancers	Brain Angular Gyrus	brain
23	chr16:65148200-65149400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr16:65148200-65150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:65148200-65151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:65148200-65151600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:65148200-65151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:65148400-65149200	Enhancers	Fetal Kidney	kidney
29	chr16:65148400-65150400	Enhancers	Brain Substantia Nigra	brain
30	chr16:65148400-65151400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:65148600-65149200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr16:65148600-65149200	Enhancers	HMEC	breast
33	chr16:65148600-65150400	Genic enhancers	Osteobl	bone
34	chr16:65148600-65151400	Genic enhancers	NH-A	brain
35	chr16:65148600-65152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:65148600-65152800	Weak transcription	NHEK	skin
37	chr16:65148800-65149200	Flanking Active TSS	Fetal Brain Male	brain
38	chr16:65148800-65149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:65148800-65149800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:65148800-65149800	Weak transcription	Ovary	ovary
41	chr16:65148800-65150000	Weak transcription	Brain Germinal Matrix	brain
42	chr16:65148800-65150600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr16:65148800-65150600	Enhancers	Fetal Brain Female	brain
44	chr16:65148800-65150800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:65148800-65150800	Weak transcription	NHDF-Ad	bronchial
46	chr16:65148800-65150800	Weak transcription	NHLF	lung
47	chr16:65148800-65151000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:65149000-65149600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:65149000-65150000	Weak transcription	Aorta	Aorta
50	chr16:65149000-65150000	Weak transcription	Rectal Smooth Muscle	rectum

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