Variant report

Variant	rs2544599
Chromosome Location	chr5:79731608-79731609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10052497	0.83[EUR][1000 genomes]
rs10433	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942926	1.00[ASN][1000 genomes]
rs1097307	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097308	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097309	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1102116	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1103116	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1363775	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423113	0.82[ASN][1000 genomes]
rs168938	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168939	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168940	0.84[ASN][1000 genomes]
rs171595	0.95[ASN][1000 genomes]
rs171596	0.95[ASN][1000 genomes]
rs171821	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs173597	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs173599	1.00[ASN][1000 genomes]
rs174075	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174076	0.82[ASN][1000 genomes]
rs1820119	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185100	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187478	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs187479	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs192313	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194540	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs194541	0.82[ASN][1000 genomes]
rs2112152	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2251759	1.00[ASN][1000 genomes]
rs248995	0.87[EUR][1000 genomes]
rs248999	0.95[ASN][1000 genomes]
rs249000	0.83[ASN][1000 genomes]
rs249001	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249003	0.95[ASN][1000 genomes]
rs249004	0.95[ASN][1000 genomes]
rs249005	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249006	0.95[ASN][1000 genomes]
rs249016	0.97[ASN][1000 genomes]
rs249018	0.82[AFR][1000 genomes]
rs249020	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs249021	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249023	1.00[ASN][1000 genomes]
rs249024	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249025	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249026	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249027	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249028	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249029	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249030	0.95[ASN][1000 genomes]
rs249031	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249032	0.95[ASN][1000 genomes]
rs249037	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249038	1.00[ASN][1000 genomes]
rs249039	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249040	0.82[AFR][1000 genomes]
rs2544591	0.84[ASN][1000 genomes]
rs2544592	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2544593	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2544598	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544600	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544603	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544604	1.00[ASN][1000 genomes]
rs2547487	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2547497	0.86[EUR][1000 genomes]
rs259023	0.90[ASN][1000 genomes]
rs259024	0.90[ASN][1000 genomes]
rs259025	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259026	0.90[ASN][1000 genomes]
rs259027	0.90[ASN][1000 genomes]
rs259028	1.00[ASN][1000 genomes]
rs259029	1.00[ASN][1000 genomes]
rs259030	1.00[ASN][1000 genomes]
rs259031	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259032	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs259033	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259034	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259035	0.86[EUR][1000 genomes]
rs259036	0.82[ASN][1000 genomes]
rs259037	0.82[ASN][1000 genomes]
rs259038	0.82[ASN][1000 genomes]
rs259039	0.84[ASN][1000 genomes]
rs259040	0.84[ASN][1000 genomes]
rs259041	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259042	0.84[ASN][1000 genomes]
rs259043	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259044	0.84[ASN][1000 genomes]
rs259045	0.84[ASN][1000 genomes]
rs259046	0.84[ASN][1000 genomes]
rs259047	0.84[ASN][1000 genomes]
rs259048	0.84[ASN][1000 genomes]
rs259051	0.84[ASN][1000 genomes]
rs259052	0.87[ASN][1000 genomes]
rs259053	0.84[ASN][1000 genomes]
rs259054	0.84[ASN][1000 genomes]
rs259055	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2599508	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3095850	0.82[AFR][1000 genomes]
rs3095851	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096111	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs394076	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394170	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399261	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs401612	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408899	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704674	1.00[ASN][1000 genomes]
rs557346	0.95[ASN][1000 genomes]
rs6885891	0.82[ASN][1000 genomes]
rs701380	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7710130	0.81[AMR][1000 genomes]
rs835726	0.87[ASN][1000 genomes]
rs835728	0.83[ASN][1000 genomes]
rs835729	0.92[ASN][1000 genomes]
rs835731	0.85[EUR][1000 genomes]
rs856765	1.00[ASN][1000 genomes]
rs856772	0.95[ASN][1000 genomes]
rs863163	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs969567	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79704600-79758000	Weak transcription	Spleen	Spleen
2	chr5:79704600-79758600	Weak transcription	Gastric	stomach
3	chr5:79705600-79757400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:79705800-79731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:79706000-79731800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:79706000-79732000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:79706000-79732000	Weak transcription	NHLF	lung
8	chr5:79707800-79731800	Weak transcription	Brain Angular Gyrus	brain
9	chr5:79707800-79735400	Weak transcription	Hela-S3	cervix
10	chr5:79708000-79731800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:79708000-79738200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:79708000-79739200	Weak transcription	Right Ventricle	heart
13	chr5:79710400-79731800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:79710400-79732000	Weak transcription	A549	lung
15	chr5:79718200-79731800	Weak transcription	NH-A	brain
16	chr5:79720400-79743200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:79722400-79733400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:79722600-79765400	Weak transcription	Fetal Brain Male	brain
19	chr5:79722800-79731800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:79722800-79732800	Weak transcription	Fetal Kidney	kidney
21	chr5:79724000-79731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:79724200-79757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:79725200-79732800	Weak transcription	HMEC	breast
24	chr5:79726800-79741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:79727800-79732000	Weak transcription	HUVEC	blood vessel
26	chr5:79728000-79731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:79728000-79732800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:79728400-79731800	Weak transcription	HSMM	muscle
29	chr5:79728600-79732600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:79728800-79732000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:79728800-79739000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:79729000-79731800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:79729000-79731800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:79729000-79733000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:79729200-79731800	Weak transcription	HSMMtube	muscle
36	chr5:79729800-79732600	Weak transcription	K562	blood
37	chr5:79729800-79752800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:79730000-79731800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:79730000-79731800	Weak transcription	Dnd41	blood
40	chr5:79730000-79732800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:79730000-79734200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:79730000-79737200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:79730000-79750600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:79730000-79756400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:79730000-79757000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:79730200-79731800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:79730200-79731800	Strong transcription	Fetal Intestine Small	intestine
48	chr5:79730200-79731800	Weak transcription	Small Intestine	intestine
49	chr5:79730200-79732000	Strong transcription	Lung	lung
50	chr5:79730200-79732800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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