Variant report

Variant	rs4725943
Chromosome Location	chr7:150476550-150476551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4554383	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4725361	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4725938	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6464098	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464099	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464100	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464101	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464102	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464103	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464104	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7777104	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7806458	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4725943	TMEM176B	cis	Whole Blood	GTEx
rs4725943	AOC1	cis	Whole Blood	GTEx
rs4725943	TMEM176A	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150462800-150480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:150472800-150477600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:150473600-150477400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:150473600-150479000	Weak transcription	Small Intestine	intestine
5	chr7:150475600-150476600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:150475800-150476600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr7:150475800-150479800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:150476000-150476800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:150476000-150476800	Enhancers	Fetal Stomach	stomach
10	chr7:150476000-150477600	Weak transcription	GM12878-XiMat	blood
11	chr7:150476000-150477800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:150476000-150478800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:150476000-150481000	Weak transcription	HepG2	liver
14	chr7:150476000-150481400	Weak transcription	A549	lung
15	chr7:150476200-150477400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:150476200-150477400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:150476200-150477400	Weak transcription	NHDF-Ad	bronchial
18	chr7:150476200-150478800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:150476200-150479600	Enhancers	Liver	Liver
20	chr7:150476200-150480800	Weak transcription	Fetal Intestine Large	intestine
21	chr7:150476200-150481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:150476200-150481400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:150476200-150485200	Weak transcription	Brain Anterior Caudate	brain
24	chr7:150476400-150476600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:150476400-150476800	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:150476400-150477400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:150476400-150477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:150476400-150477400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:150476400-150477400	Weak transcription	Adipose Nuclei	Adipose

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