Variant report

Variant	rs72773517
Chromosome Location	chr5:93970216-93970217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93969932..93973613-chr5:93973766..93976891,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1006627	0.88[ASN][1000 genomes]
rs10074178	0.87[ASN][1000 genomes]
rs1031389	0.87[ASN][1000 genomes]
rs11135406	0.91[ASN][1000 genomes]
rs11135407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135409	0.90[ASN][1000 genomes]
rs11135411	0.84[EUR][1000 genomes]
rs1124668	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12515845	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12517059	0.83[ASN][1000 genomes]
rs12521289	0.88[ASN][1000 genomes]
rs12523457	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12651956	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12652705	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653116	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12653594	0.91[ASN][1000 genomes]
rs12653819	0.89[ASN][1000 genomes]
rs12654602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655669	0.88[ASN][1000 genomes]
rs12656300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12656694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1390642	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390644	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1451735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083824	0.89[ASN][1000 genomes]
rs17083825	0.91[ASN][1000 genomes]
rs17083826	0.91[ASN][1000 genomes]
rs17083827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083873	0.88[ASN][1000 genomes]
rs17083887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17083888	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083896	0.88[ASN][1000 genomes]
rs17083911	0.88[ASN][1000 genomes]
rs17083945	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2003118	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2032813	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2044910	0.87[ASN][1000 genomes]
rs2044911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047318	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047319	0.91[ASN][1000 genomes]
rs2122984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2201620	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2220965	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270626	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346764	0.88[ASN][1000 genomes]
rs2346765	0.86[ASN][1000 genomes]
rs34074526	0.84[ASN][1000 genomes]
rs35111621	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3947399	0.89[ASN][1000 genomes]
rs4537040	0.90[ASN][1000 genomes]
rs56242961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56824518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57041121	0.88[ASN][1000 genomes]
rs57188935	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60191000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61152231	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6556850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6556851	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66464936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66483218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66488253	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66518525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66578784	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66666052	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66694903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66696350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66901899	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66936860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67313609	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67531524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67573880	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67577452	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67674687	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67831380	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67994891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865667	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6869588	0.80[ASN][1000 genomes]
rs6879347	0.88[ASN][1000 genomes]
rs6879384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6883128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6883326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6890092	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6891545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6893587	0.88[ASN][1000 genomes]
rs6897550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72771700	0.89[ASN][1000 genomes]
rs72773504	0.89[ASN][1000 genomes]
rs72773507	0.89[ASN][1000 genomes]
rs72773513	0.91[ASN][1000 genomes]
rs72773522	0.91[ASN][1000 genomes]
rs72773523	0.91[ASN][1000 genomes]
rs72773524	0.91[ASN][1000 genomes]
rs72773526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773528	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72773533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773541	0.89[ASN][1000 genomes]
rs72773547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72773549	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72773556	0.83[ASN][1000 genomes]
rs72773593	0.85[EUR][1000 genomes]
rs73136312	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7446179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755900	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7735473	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7735659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880264	0.84[ASN][1000 genomes]
rs9791082	0.82[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	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955400-93973000	Weak transcription	Ovary	ovary
3	chr5:93955400-93973000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:93955600-93972000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:93955800-93973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:93955800-93973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:93955800-93974000	Weak transcription	HMEC	breast
12	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:93955800-94027600	Weak transcription	NH-A	brain
14	chr5:93956000-93972800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:93956000-93972800	Weak transcription	Thymus	Thymus
16	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:93957400-93972000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:93957400-93972800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:93957800-93982400	Weak transcription	Psoas Muscle	Psoas
20	chr5:93958800-93973000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:93959000-93972000	Weak transcription	NHDF-Ad	bronchial
22	chr5:93959000-93976400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:93960000-93972800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:93960200-93970400	Weak transcription	HUVEC	blood vessel
25	chr5:93962800-93975400	Weak transcription	NHLF	lung
26	chr5:93963200-93973200	Weak transcription	Esophagus	oesophagus
27	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:93964400-93973600	Strong transcription	Hela-S3	cervix
29	chr5:93964600-93972400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:93965800-93970600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:93965800-93973600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:93966400-93971600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:93966400-93971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:93966400-93972600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:93966600-93971800	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:93966600-93972800	Weak transcription	Brain Germinal Matrix	brain
39	chr5:93966600-93974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:93966600-93980000	Weak transcription	Left Ventricle	heart
41	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:93967200-93972400	Weak transcription	Adipose Nuclei	Adipose
43	chr5:93967200-93974400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:93967200-93979600	Weak transcription	Brain Anterior Caudate	brain
45	chr5:93967400-93970400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:93967400-93971600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:93967400-93972800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:93967400-93974400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:93967400-93974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:93967400-93975200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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