Variant report

Variant	rs28770189
Chromosome Location	chr1:175921554-175921555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10494497	0.85[AMR][1000 genomes]
rs12119366	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12123116	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12125119	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12125192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12127204	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12128099	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12128327	0.85[AMR][1000 genomes]
rs12129466	0.81[AMR][1000 genomes]
rs12130538	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12132072	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12133268	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12133701	0.85[AMR][1000 genomes]
rs12137136	0.85[AMR][1000 genomes]
rs12139160	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12140631	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12141054	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142010	0.85[AMR][1000 genomes]
rs12144692	0.85[AMR][1000 genomes]
rs12145452	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16849475	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56230548	0.85[AMR][1000 genomes]
rs7349083	0.92[AMR][1000 genomes];0.93[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
3	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:175889200-175937800	Weak transcription	Osteobl	bone
7	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
13	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
14	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:175901800-175925800	Weak transcription	HUVEC	blood vessel
16	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:175903200-175924200	Weak transcription	Gastric	stomach
18	chr1:175903400-175951400	Weak transcription	K562	blood
19	chr1:175903600-175940800	Weak transcription	HMEC	breast
20	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
21	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
22	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:175906000-175930000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
27	chr1:175906400-175962600	Weak transcription	NH-A	brain
28	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:175907800-175937400	Weak transcription	NHLF	lung
31	chr1:175907800-175940600	Weak transcription	Colonic Mucosa	Colon
32	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
33	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:175908000-175959400	Weak transcription	NHEK	skin
35	chr1:175908200-175939400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:175909400-175948000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:175909600-175924200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:175909600-175924200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:175909600-175932200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:175909600-175942800	Weak transcription	Fetal Brain Female	brain
41	chr1:175911200-175947600	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:175911200-175950400	Weak transcription	Fetal Heart	heart
43	chr1:175911400-175921800	Weak transcription	Lung	lung
44	chr1:175912000-175924000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:175913600-175929800	Weak transcription	Left Ventricle	heart
46	chr1:175916000-175940600	Weak transcription	Hela-S3	cervix
47	chr1:175916200-175929600	Weak transcription	Fetal Thymus	thymus
48	chr1:175916200-175929800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:175916200-175937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:175916200-175939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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