Variant report

Variant	rs10053994
Chromosome Location	chr5:112416124-112416125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10045658	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10058407	0.97[ASN][1000 genomes]
rs10063834	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10078431	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10223151	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10223152	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10477486	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10478102	0.85[EUR][1000 genomes]
rs10478106	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11241190	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11744218	0.97[ASN][1000 genomes]
rs11744828	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744956	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11750093	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11960706	0.95[ASN][1000 genomes]
rs12513669	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13174818	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2227947	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227950	0.96[ASN][1000 genomes]
rs28645351	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28774401	0.95[ASN][1000 genomes]
rs36182962	0.93[ASN][1000 genomes]
rs3890775	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3890776	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4235788	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4283779	0.92[ASN][1000 genomes]
rs4397121	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4463174	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4645326	0.94[ASN][1000 genomes]
rs4705539	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56054154	0.96[ASN][1000 genomes]
rs6594672	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6594673	0.93[ASN][1000 genomes]
rs6594675	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594679	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594680	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6859813	0.97[ASN][1000 genomes]
rs6861166	0.94[ASN][1000 genomes]
rs6862481	0.81[ASN][1000 genomes]
rs6863319	0.80[ASN][1000 genomes]
rs6865444	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6866442	0.96[ASN][1000 genomes]
rs6866566	0.96[ASN][1000 genomes]
rs6866706	0.96[ASN][1000 genomes]
rs6866718	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869383	0.91[ASN][1000 genomes]
rs6873623	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6874220	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874314	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874595	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874727	0.91[ASN][1000 genomes]
rs6878846	0.95[ASN][1000 genomes]
rs6879138	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879633	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6879634	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879942	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6882689	0.95[ASN][1000 genomes]
rs6894700	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6898297	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7708475	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7713290	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7713336	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7714010	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714160	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714275	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714334	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714349	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714363	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7714492	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714725	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7728858	0.96[ASN][1000 genomes]
rs7728921	0.96[ASN][1000 genomes]
rs7732048	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7734411	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7734511	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7736823	0.97[ASN][1000 genomes]
rs7737329	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9326874	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9326875	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
4	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:112391600-112439000	Weak transcription	Gastric	stomach
6	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
11	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:112400200-112416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:112400200-112416800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
16	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
20	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
21	chr5:112404600-112417000	Weak transcription	HSMMtube	muscle
22	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:112406000-112416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:112406800-112416800	Weak transcription	HMEC	breast
25	chr5:112407000-112416800	Weak transcription	NHEK	skin
26	chr5:112407200-112417000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:112407400-112418000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:112409000-112419600	Weak transcription	Fetal Heart	heart
29	chr5:112409200-112416600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:112409200-112416600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:112409400-112416600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:112409400-112416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:112411000-112417000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:112411000-112431800	Weak transcription	Spleen	Spleen
35	chr5:112411200-112416600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:112411200-112416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:112411200-112417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:112411200-112425800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:112411400-112416400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:112411600-112416200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:112411600-112416600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:112411600-112416600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:112411600-112416600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:112411600-112416600	Weak transcription	Left Ventricle	heart
46	chr5:112411600-112416600	Weak transcription	Ovary	ovary
47	chr5:112411600-112417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:112411600-112417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:112411600-112417600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:112411600-112417600	Weak transcription	Right Ventricle	heart

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