Variant report

Variant	rs59568430
Chromosome Location	chr5:80177853-80177854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11950254	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11956599	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12515222	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12515548	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12518711	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12521191	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12521371	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12521389	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12521539	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12522132	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12522474	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12522866	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13154537	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13165877	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13168327	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178429	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13178892	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13179210	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186354	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1679115	0.90[ASN][1000 genomes]
rs168653	0.92[ASN][1000 genomes]
rs2112415	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306371	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245340	0.98[ASN][1000 genomes]
rs245341	0.97[ASN][1000 genomes]
rs245348	0.92[ASN][1000 genomes]
rs245355	0.93[ASN][1000 genomes]
rs245356	0.93[ASN][1000 genomes]
rs245357	0.93[ASN][1000 genomes]
rs245360	0.93[ASN][1000 genomes]
rs245364	0.82[ASN][1000 genomes]
rs245372	0.97[ASN][1000 genomes]
rs245373	0.90[ASN][1000 genomes]
rs245374	0.92[ASN][1000 genomes]
rs245379	0.90[ASN][1000 genomes]
rs245380	0.88[ASN][1000 genomes]
rs245385	0.92[ASN][1000 genomes]
rs245386	0.90[ASN][1000 genomes]
rs245389	0.83[ASN][1000 genomes]
rs26278	0.90[ASN][1000 genomes]
rs26279	1.00[ASN][1000 genomes]
rs27366	0.91[ASN][1000 genomes]
rs27494	1.00[ASN][1000 genomes]
rs27887	1.00[ASN][1000 genomes]
rs2897298	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs32963	1.00[ASN][1000 genomes]
rs32964	1.00[ASN][1000 genomes]
rs32967	1.00[ASN][1000 genomes]
rs32968	1.00[ASN][1000 genomes]
rs32969	0.90[ASN][1000 genomes]
rs32988	0.90[ASN][1000 genomes]
rs32989	0.90[ASN][1000 genomes]
rs32999	0.87[ASN][1000 genomes]
rs34205517	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34274010	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34560430	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34799825	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34816304	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34829384	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34976588	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35109637	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35688814	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35856198	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35889396	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35967780	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36160284	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3776976	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3776977	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3776978	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3797898	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39626	0.91[ASN][1000 genomes]
rs40591	0.87[ASN][1000 genomes]
rs4293894	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55661202	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58825743	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59360125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151888	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6151896	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6151904	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6151907	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6151919	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151923	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66821541	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67240890	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6863363	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6874051	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6874652	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877065	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6891635	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs701388	0.86[ASN][1000 genomes]
rs71636248	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72767323	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767330	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7705816	0.87[ASN][1000 genomes]
rs7707965	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7708096	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717404	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7721813	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7737445	0.84[ASN][1000 genomes]
rs888867	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9293824	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
2	chr5:80141200-80178800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:80145600-80181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:80149800-80180000	Weak transcription	Psoas Muscle	Psoas
5	chr5:80152800-80179000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:80157600-80180000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:80163000-80181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:80163200-80180000	Weak transcription	Fetal Kidney	kidney
9	chr5:80163200-80186600	Weak transcription	HSMMtube	muscle
10	chr5:80163200-80188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:80167800-80178200	Weak transcription	Placenta	Placenta
12	chr5:80167800-80180800	Weak transcription	K562	blood
13	chr5:80167800-80187200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:80169600-80190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:80171200-80183600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:80171200-80186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
18	chr5:80171800-80186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80172000-80180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:80172200-80186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:80173200-80181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:80173600-80181400	Weak transcription	Ovary	ovary
23	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:80173800-80179000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:80173800-80181200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:80173800-80186200	Weak transcription	Fetal Brain Female	brain
27	chr5:80173800-80188600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:80174000-80178400	Weak transcription	Esophagus	oesophagus
29	chr5:80174000-80178600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:80174000-80178800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:80174000-80178800	Weak transcription	Pancreas	Pancrea
32	chr5:80174000-80180000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:80174000-80180000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:80174000-80180200	Weak transcription	Fetal Intestine Large	intestine
35	chr5:80174000-80180400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:80174000-80180600	Weak transcription	Fetal Intestine Small	intestine
37	chr5:80174000-80181000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:80174000-80181000	Weak transcription	NHEK	skin
39	chr5:80174000-80181400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:80174000-80181400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:80174000-80181400	Weak transcription	Osteobl	bone
42	chr5:80174000-80183000	Weak transcription	Gastric	stomach
43	chr5:80174000-80185000	Weak transcription	Thymus	Thymus
44	chr5:80174000-80185000	Weak transcription	Dnd41	blood
45	chr5:80174000-80185600	Weak transcription	Lung	lung
46	chr5:80174000-80186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:80174000-80186400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:80174000-80186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:80174000-80186600	Weak transcription	Fetal Lung	lung
50	chr5:80174000-80186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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