Variant report

Variant	rs28707318
Chromosome Location	chr4:143283973-143283974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10021260	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120454	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640900	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1497393	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1497396	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565307	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2200841	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28435783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842192	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666932	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308149	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs931420	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs977617	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998814	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998945	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	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	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
4	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143270800-143284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
3	chr4:143274800-143285800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:143274800-143286200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:143274800-143288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:143275200-143286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:143275400-143285000	Weak transcription	A549	lung
8	chr4:143275400-143288000	Weak transcription	Aorta	Aorta
9	chr4:143275600-143286200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:143276200-143285800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:143276200-143285800	Weak transcription	NHDF-Ad	bronchial
12	chr4:143276200-143289800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:143277000-143285000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:143277000-143286200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:143277200-143286200	Weak transcription	Fetal Lung	lung
18	chr4:143277200-143288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:143277800-143289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:143278200-143286200	Weak transcription	HMEC	breast
21	chr4:143278400-143284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
23	chr4:143278600-143284200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:143278800-143284600	Weak transcription	Dnd41	blood
25	chr4:143280200-143284000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:143280200-143284800	Weak transcription	HSMM	muscle
27	chr4:143280400-143286000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:143280600-143284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:143280600-143285000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:143280600-143287600	Weak transcription	Fetal Heart	heart
31	chr4:143282000-143284000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:143282400-143284000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:143282400-143286800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143283000-143284200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:143283200-143284000	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr4:143283200-143284400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:143283200-143284800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:143283200-143285200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:143283400-143286000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr4:143283600-143284800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:143283800-143284200	Strong transcription	NHEK	skin
42	chr4:143283800-143285200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:143283800-143285600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr4:143283800-143285800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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