Variant report

Variant	rs28690972
Chromosome Location	chr4:143160142-143160143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001631	0.96[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	0.97[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322547	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322548	0.92[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]
rs28533923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28705116	0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835967	0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847049	0.98[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	0.98[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:6 , 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
6	nsv964745	chr4:143159565-143162633	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 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	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:143151200-143174000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:143157600-143173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:143158200-143162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:143158200-143173600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:143158400-143160400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:143158400-143163000	Weak transcription	Primary T cells from cord blood	blood
12	chr4:143158400-143163800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:143158400-143174000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:143158600-143160400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:143158600-143163400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:143158600-143173800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:143158800-143161800	Weak transcription	Dnd41	blood
18	chr4:143159200-143161000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:143159200-143181000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:143159200-143181000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:143159400-143160400	Enhancers	NHLF	lung
22	chr4:143159400-143160600	Enhancers	NHDF-Ad	bronchial
23	chr4:143159400-143160600	Enhancers	Osteobl	bone
24	chr4:143159600-143160400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:143159600-143160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:143159600-143160600	Enhancers	Fetal Heart	heart
27	chr4:143159600-143160600	Enhancers	HSMMtube	muscle
28	chr4:143159600-143160600	Enhancers	NH-A	brain
29	chr4:143159600-143161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:143159800-143160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:143159800-143160200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:143159800-143160200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:143159800-143160200	Enhancers	NHEK	skin
34	chr4:143159800-143160400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:143159800-143160400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:143159800-143160600	Enhancers	HMEC	breast
37	chr4:143159800-143160600	Enhancers	HSMM	muscle
38	chr4:143160000-143160200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:143160000-143160400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:143160000-143160600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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