Variant report

Variant	rs10060694
Chromosome Location	chr5:108131047-108131048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10038669	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10044305	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10045220	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10062204	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10063167	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10073668	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10079165	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10477431	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180513	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2081126	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081129	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081130	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28637651	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28651469	0.81[EUR][1000 genomes]
rs2900035	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34125469	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35398495	0.87[AFR][1000 genomes]
rs4604227	0.80[ASN][1000 genomes]
rs6594338	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594340	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6873068	0.89[AFR][1000 genomes]
rs6874229	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6875320	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6880284	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6889550	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891194	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895027	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7700630	0.81[ASN][1000 genomes]
rs7709267	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7710482	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7712834	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7712956	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7725391	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7726708	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7731891	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7735235	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326747	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9326748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9885082	0.82[ASN][1000 genomes]
rs9885168	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:108105400-108133200	Weak transcription	NHDF-Ad	bronchial
3	chr5:108112600-108137200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:108117800-108138200	Weak transcription	Liver	Liver
5	chr5:108118000-108132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:108118200-108136800	Weak transcription	NHLF	lung
7	chr5:108120000-108136800	Weak transcription	A549	lung
8	chr5:108120200-108137600	Weak transcription	Spleen	Spleen
9	chr5:108120200-108142200	Weak transcription	Aorta	Aorta
10	chr5:108120600-108146400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:108120800-108146400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:108121000-108138600	Weak transcription	Fetal Kidney	kidney
13	chr5:108121000-108139000	Weak transcription	Primary T cells from cord blood	blood
14	chr5:108121000-108139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:108121200-108132200	Weak transcription	Fetal Lung	lung
16	chr5:108121200-108132800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:108121800-108137200	Weak transcription	HSMMtube	muscle
18	chr5:108123000-108138200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:108123400-108138200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:108123400-108139400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:108124000-108132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:108124000-108133000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:108124000-108136000	Weak transcription	Fetal Intestine Large	intestine
24	chr5:108124000-108137200	Weak transcription	HSMM	muscle
25	chr5:108124000-108138800	Weak transcription	Fetal Brain Male	brain
26	chr5:108124000-108139200	Weak transcription	Primary B cells from cord blood	blood
27	chr5:108124200-108131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:108124200-108132000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:108124200-108132000	Weak transcription	Fetal Stomach	stomach
30	chr5:108124200-108132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:108124200-108132200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:108124200-108132200	Weak transcription	Lung	lung
33	chr5:108124200-108132800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:108124200-108133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:108124200-108133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:108124200-108135600	Weak transcription	Adipose Nuclei	Adipose
37	chr5:108124200-108136000	Weak transcription	Right Ventricle	heart
38	chr5:108124200-108141600	Weak transcription	Pancreas	Pancrea
39	chr5:108124200-108141800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:108124200-108142800	Weak transcription	Ovary	ovary
41	chr5:108124400-108132000	Weak transcription	Esophagus	oesophagus
42	chr5:108124400-108137200	Weak transcription	Fetal Brain Female	brain
43	chr5:108124400-108138200	Weak transcription	Brain Angular Gyrus	brain
44	chr5:108124400-108139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:108124600-108146600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:108124800-108131800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:108124800-108149400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:108125200-108133000	Weak transcription	Brain Anterior Caudate	brain
49	chr5:108125200-108137800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:108125200-108139200	Weak transcription	Brain Hippocampus Middle	brain

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