Variant report

Variant	rs11589368
Chromosome Location	chr1:57165327-57165328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10749708	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10789036	0.85[ASN][1000 genomes]
rs10789038	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10789040	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789041	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889006	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10889008	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889009	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889010	0.82[EUR][1000 genomes]
rs11206884	0.88[ASN][1000 genomes]
rs11206885	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11206886	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11206888	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11206889	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11206890	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11206895	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206899	0.80[EUR][1000 genomes]
rs11804779	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12021768	0.88[ASN][1000 genomes]
rs12021851	0.88[ASN][1000 genomes]
rs12023668	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032999	0.86[ASN][1000 genomes]
rs12048572	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073311	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12078260	0.85[ASN][1000 genomes]
rs12092267	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12097148	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12738355	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13374924	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1418442	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986660	0.88[ASN][1000 genomes]
rs2143754	0.82[EUR][1000 genomes]
rs2404718	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2404992	0.88[ASN][1000 genomes]
rs2404993	0.88[ASN][1000 genomes]
rs2746345	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2746353	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796517	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2796519	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2796523	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2796527	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4548471	0.88[ASN][1000 genomes]
rs4551620	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4562656	0.85[ASN][1000 genomes]
rs4584419	0.85[ASN][1000 genomes]
rs59223968	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61772962	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61774287	0.88[ASN][1000 genomes]
rs6588641	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72666470	0.83[ASN][1000 genomes]
rs7415042	0.82[EUR][1000 genomes]
rs7419053	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515414	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7519509	0.85[ASN][1000 genomes]
rs7533440	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7545066	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546264	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547486	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs932447	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9887834	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9887940	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv520726	chr1:57143986-57205666	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
3	chr1:57144200-57171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:57144400-57169400	Weak transcription	Fetal Kidney	kidney
5	chr1:57144400-57173600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:57149600-57166000	Weak transcription	Right Ventricle	heart
7	chr1:57150000-57165800	Weak transcription	Left Ventricle	heart
8	chr1:57150600-57168000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:57151000-57165600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:57151400-57165400	Weak transcription	Fetal Heart	heart
11	chr1:57152400-57165800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:57154200-57174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:57154400-57166000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:57154400-57169000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57154400-57174600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:57154400-57174800	Weak transcription	Gastric	stomach
17	chr1:57154600-57169800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:57154800-57165800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:57154800-57166000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:57156600-57165800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:57158400-57169000	Weak transcription	Hela-S3	cervix
22	chr1:57158800-57166000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:57159000-57166000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:57159200-57166600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:57159600-57172800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:57159800-57174800	Weak transcription	Fetal Stomach	stomach
27	chr1:57160000-57174800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:57160200-57174600	Weak transcription	Fetal Brain Male	brain
29	chr1:57160400-57165400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:57160400-57166000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:57160400-57174800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:57160800-57165600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:57161400-57166000	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:57162000-57165400	Weak transcription	HepG2	liver
35	chr1:57162000-57165800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:57162200-57165400	Weak transcription	Fetal Brain Female	brain
37	chr1:57162400-57165400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:57162600-57165400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:57162600-57169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:57162600-57169400	Weak transcription	A549	lung
41	chr1:57162600-57174600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:57162800-57176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:57164200-57165400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:57165000-57166400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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