Variant report

Variant	rs72773523
Chromosome Location	chr5:93975342-93975343
allele	A/G
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:
2	chr5:93966675..93969302-chr5:93973878..93976384,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1006626	0.88[ASN][1000 genomes]
rs1006627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1026232	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11135406	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135407	0.91[ASN][1000 genomes]
rs11135408	0.90[ASN][1000 genomes]
rs11135409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135410	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1124668	0.87[ASN][1000 genomes]
rs12514098	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12517059	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12519472	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12521289	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12652705	0.88[ASN][1000 genomes]
rs12653594	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653819	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12654602	0.91[ASN][1000 genomes]
rs12655521	0.89[ASN][1000 genomes]
rs12655665	0.89[ASN][1000 genomes]
rs12655669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12656300	0.89[ASN][1000 genomes]
rs12656694	0.91[ASN][1000 genomes]
rs12657227	0.89[ASN][1000 genomes]
rs12657323	0.91[ASN][1000 genomes]
rs12659125	0.84[ASN][1000 genomes]
rs12659597	0.89[ASN][1000 genomes]
rs1390642	0.91[ASN][1000 genomes]
rs1390644	0.89[ASN][1000 genomes]
rs1451735	0.88[ASN][1000 genomes]
rs1562911	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17083824	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083825	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083826	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083827	0.91[ASN][1000 genomes]
rs17083828	0.91[ASN][1000 genomes]
rs17083873	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083887	0.88[ASN][1000 genomes]
rs17083888	0.86[ASN][1000 genomes]
rs17083896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083911	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2032813	0.89[ASN][1000 genomes]
rs2044910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044911	0.89[ASN][1000 genomes]
rs2047318	0.89[ASN][1000 genomes]
rs2047319	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122984	0.91[ASN][1000 genomes]
rs2122985	0.91[ASN][1000 genomes]
rs2132548	0.89[ASN][1000 genomes]
rs2201620	0.87[ASN][1000 genomes]
rs2220965	0.87[ASN][1000 genomes]
rs2270626	0.84[ASN][1000 genomes]
rs2346764	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2346765	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34074526	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3947399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4537040	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56242961	0.91[ASN][1000 genomes]
rs56824518	0.88[ASN][1000 genomes]
rs57041121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57188935	0.91[ASN][1000 genomes]
rs60191000	0.88[ASN][1000 genomes]
rs6556850	0.89[ASN][1000 genomes]
rs6556851	0.89[ASN][1000 genomes]
rs66464936	0.88[ASN][1000 genomes]
rs66483218	0.88[ASN][1000 genomes]
rs66488253	0.91[ASN][1000 genomes]
rs66518525	0.89[ASN][1000 genomes]
rs66578784	0.87[ASN][1000 genomes]
rs66694903	0.91[ASN][1000 genomes]
rs66696350	0.89[ASN][1000 genomes]
rs66936860	0.90[ASN][1000 genomes]
rs67313609	0.88[ASN][1000 genomes]
rs67531524	0.91[ASN][1000 genomes]
rs67831380	0.88[ASN][1000 genomes]
rs67994891	0.89[ASN][1000 genomes]
rs6869588	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6879347	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879384	0.88[ASN][1000 genomes]
rs6883128	0.88[ASN][1000 genomes]
rs6883326	0.88[ASN][1000 genomes]
rs6891545	0.86[ASN][1000 genomes]
rs6893587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897550	0.87[ASN][1000 genomes]
rs72771700	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773504	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773507	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773513	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773517	0.91[ASN][1000 genomes]
rs72773522	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773526	0.91[ASN][1000 genomes]
rs72773528	0.85[ASN][1000 genomes]
rs72773533	0.89[ASN][1000 genomes]
rs72773541	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773547	0.88[ASN][1000 genomes]
rs72773549	0.88[ASN][1000 genomes]
rs72773556	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72773573	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72773575	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72773586	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73136312	0.91[ASN][1000 genomes]
rs7446179	0.91[ASN][1000 genomes]
rs755900	0.90[ASN][1000 genomes]
rs7735659	0.89[ASN][1000 genomes]
rs7737187	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7737366	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9918142	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv882386	chr5:93973177-94008969	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:93955800-94027600	Weak transcription	NH-A	brain
6	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:93957800-93982400	Weak transcription	Psoas Muscle	Psoas
8	chr5:93959000-93976400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:93962800-93975400	Weak transcription	NHLF	lung
10	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:93966600-93980000	Weak transcription	Left Ventricle	heart
14	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:93967200-93979600	Weak transcription	Brain Anterior Caudate	brain
16	chr5:93967400-93975400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:93967400-93991400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:93967600-93979800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:93967600-93988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:93967800-93978200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:93967800-93991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:93968000-93990200	Weak transcription	Fetal Kidney	kidney
23	chr5:93968000-93995200	Weak transcription	HSMM	muscle
24	chr5:93968400-93975800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:93969000-93976600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr5:93969200-93978200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:93969400-94008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:93969600-93977400	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr5:93971400-93976800	ZNF genes & repeats	Dnd41	blood
30	chr5:93971400-93995400	Weak transcription	Spleen	Spleen
31	chr5:93971600-93976800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr5:93972000-93977800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:93972000-93978000	ZNF genes & repeats	A549	lung
34	chr5:93972400-93975600	ZNF genes & repeats	Fetal Thymus	thymus
35	chr5:93972400-93975800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr5:93972400-93975800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr5:93972600-93975400	Weak transcription	Aorta	Aorta
38	chr5:93972600-93975600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr5:93972600-93978000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:93972800-93976800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr5:93972800-93976800	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr5:93972800-93976800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr5:93972800-93977000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:93973000-93975400	Strong transcription	Primary T cells from cord blood	blood
45	chr5:93973000-93975600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:93973000-93975800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:93973000-93975800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:93973000-93975800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:93973200-93975800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
50	chr5:93973200-93988400	Weak transcription	Fetal Brain Male	brain

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