Variant report

Variant	rs4725944
Chromosome Location	chr7:150476673-150476674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10231567	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10237224	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10247710	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10250545	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10255907	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10256366	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10265670	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12668327	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2110002	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2159845	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2159846	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159847	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28891172	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4725360	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4725363	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4725939	0.92[ASN][1000 genomes]
rs4725940	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66661012	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944410	0.87[ASN][1000 genomes]
rs73163580	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7341523	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7341524	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7776635	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783731	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783744	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7786120	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7789389	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9640280	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4725944	TMEM176B	cis	Whole Blood	GTEx
rs4725944	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	chr7:150475800-150479800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:150476000-150476800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:150476000-150476800	Enhancers	Fetal Stomach	stomach
8	chr7:150476000-150477600	Weak transcription	GM12878-XiMat	blood
9	chr7:150476000-150477800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:150476000-150478800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:150476000-150481000	Weak transcription	HepG2	liver
12	chr7:150476000-150481400	Weak transcription	A549	lung
13	chr7:150476200-150477400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:150476200-150477400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:150476200-150477400	Weak transcription	NHDF-Ad	bronchial
16	chr7:150476200-150478800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:150476200-150479600	Enhancers	Liver	Liver
18	chr7:150476200-150480800	Weak transcription	Fetal Intestine Large	intestine
19	chr7:150476200-150481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:150476200-150481400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:150476200-150485200	Weak transcription	Brain Anterior Caudate	brain
22	chr7:150476400-150476800	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:150476400-150477400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:150476400-150477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:150476400-150477400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:150476400-150477400	Weak transcription	Adipose Nuclei	Adipose
27	chr7:150476600-150476800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:150476600-150477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:150476600-150477600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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