Variant report

Variant	rs28533923
Chromosome Location	chr4:143157602-143157603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10001631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003428	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1219271	0.84[EUR][1000 genomes]
rs1219273	0.84[EUR][1000 genomes]
rs1219274	0.84[EUR][1000 genomes]
rs17015623	0.90[EUR][1000 genomes]
rs17015729	0.93[EUR][1000 genomes]
rs17015754	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015774	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015778	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705389	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322544	0.82[EUR][1000 genomes]
rs2322546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322547	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627810	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636646	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28420315	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448773	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529144	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584886	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28647625	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28705116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336388	0.84[EUR][1000 genomes]
rs4629539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844709	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6846839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722471	0.85[ASN][1000 genomes]
rs7672615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691738	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
3	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:143139400-143159600	Weak transcription	HSMMtube	muscle
6	chr4:143142200-143159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:143143600-143159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:143144000-143159200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:143145200-143157800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:143151200-143174000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:143152400-143159000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:143152600-143159600	Weak transcription	Fetal Heart	heart
14	chr4:143153000-143158200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:143155400-143159200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr4:143155400-143159200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:143156000-143158600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:143157000-143158400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:143157000-143158400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:143157200-143158200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:143157200-143158200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:143157200-143158400	Strong transcription	Primary T cells from cord blood	blood
24	chr4:143157200-143158400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:143157200-143158400	Genic enhancers	HMEC	breast
26	chr4:143157200-143158400	Strong transcription	HSMM	muscle
27	chr4:143157200-143158600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:143157200-143158600	Enhancers	NHEK	skin
29	chr4:143157200-143158800	Strong transcription	Dnd41	blood
30	chr4:143157400-143158400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:143157400-143158600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:143157600-143158000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:143157600-143158400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr4:143157600-143173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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