Variant report

Variant	rs11048839
Chromosome Location	chr12:9238902-9238903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10743598	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771308	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10842839	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs113973	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805682	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193006	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216143	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs226380	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226381	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226382	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226386	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226387	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226388	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226389	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226390	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226391	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs226392	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226394	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226400	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs226401	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs226403	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs226408	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs226415	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759277	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4882977	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487584	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453666	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295733	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7964085	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7965790	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976808	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9230800-9240400	Weak transcription	Placenta	Placenta
4	chr12:9230800-9243600	Weak transcription	Colonic Mucosa	Colon
5	chr12:9232200-9264600	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:9232400-9242600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:9232400-9244600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:9234600-9239400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr12:9235000-9242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9235000-9253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:9235200-9241200	Weak transcription	Left Ventricle	heart
12	chr12:9235200-9242400	Weak transcription	Aorta	Aorta
13	chr12:9235200-9242400	Weak transcription	Ovary	ovary
14	chr12:9235200-9242800	Weak transcription	Fetal Stomach	stomach
15	chr12:9235200-9242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:9235200-9242800	Weak transcription	Spleen	Spleen
17	chr12:9235200-9243000	Weak transcription	Lung	lung
18	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:9235800-9241600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:9236600-9258800	Weak transcription	Fetal Heart	heart
21	chr12:9236800-9242600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:9236800-9242800	Weak transcription	Right Ventricle	heart
23	chr12:9236800-9243200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:9237000-9240200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:9237200-9252200	Weak transcription	Psoas Muscle	Psoas
26	chr12:9237200-9261200	Strong transcription	Liver	Liver
27	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:9237400-9241000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:9237400-9241200	Weak transcription	Adipose Nuclei	Adipose
30	chr12:9237400-9241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:9237400-9264200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:9237600-9240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:9237600-9241000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:9237600-9246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:9237800-9258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:9238000-9239400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:9238600-9239600	Genic enhancers	HepG2	liver
38	chr12:9238600-9246800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:9238800-9240000	Strong transcription	Fetal Lung	lung
41	chr12:9238800-9246600	Strong transcription	Stomach Smooth Muscle	stomach

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