Variant report

Variant	rs7789389
Chromosome Location	chr7:150478821-150478822
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150477338..150480440-chr7:150482121..150485393,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10231567	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237224	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10247710	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10250545	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10255907	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10256366	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10265670	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12668327	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17173596	0.94[EUR][1000 genomes]
rs2110002	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2159845	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2159846	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159847	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28891172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4725360	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4725363	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4725939	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725940	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4725944	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66661012	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6944410	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73163580	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341523	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341524	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776635	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783731	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783744	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9640280	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv522859	chr7:150476888-150486169	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7789389	AOC1	cis	Whole Blood	GTEx
rs7789389	TMEM176A	cis	Whole Blood	GTEx
rs7789389	TMEM176B	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150462800-150480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:150473600-150479000	Weak transcription	Small Intestine	intestine
3	chr7:150475800-150479800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:150476000-150481000	Weak transcription	HepG2	liver
5	chr7:150476000-150481400	Weak transcription	A549	lung
6	chr7:150476200-150479600	Enhancers	Liver	Liver
7	chr7:150476200-150480800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:150476200-150481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:150476200-150481400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:150476200-150485200	Weak transcription	Brain Anterior Caudate	brain
11	chr7:150477200-150479600	Enhancers	Fetal Stomach	stomach
12	chr7:150477400-150479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:150477400-150479000	Enhancers	Colon Smooth Muscle	Colon
14	chr7:150477400-150479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:150477400-150479200	Enhancers	Adipose Nuclei	Adipose
16	chr7:150477400-150479200	Enhancers	Colonic Mucosa	Colon
17	chr7:150477400-150479200	Enhancers	Fetal Muscle Leg	muscle
18	chr7:150477400-150479400	Enhancers	NHDF-Ad	bronchial
19	chr7:150477400-150479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:150477600-150485400	Weak transcription	Esophagus	oesophagus
21	chr7:150477800-150479400	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:150478000-150479000	Weak transcription	Placenta	Placenta
23	chr7:150478000-150480800	Weak transcription	Fetal Intestine Small	intestine
24	chr7:150478000-150482200	Weak transcription	Right Atrium	heart
25	chr7:150478200-150481200	Weak transcription	Primary B cells from cord blood	blood
26	chr7:150478400-150481400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:150478400-150484800	Weak transcription	Fetal Kidney	kidney
28	chr7:150478600-150479000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr7:150478600-150480000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr7:150478600-150481000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:150478600-150481800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:150478800-150479000	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:150478800-150479000	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:150478800-150479200	Enhancers	Aorta	Aorta
35	chr7:150478800-150479200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr7:150478800-150479200	Enhancers	NHLF	lung

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