Variant report

Variant	rs28445981
Chromosome Location	chr4:99488419-99488420
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	chr4:99483863..99486365-chr4:99487741..99490347,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10000857	0.97[EUR][1000 genomes]
rs10001528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10005706	1.00[EUR][1000 genomes]
rs10007752	0.97[EUR][1000 genomes]
rs10010485	0.90[EUR][1000 genomes]
rs10030396	0.90[EUR][1000 genomes]
rs10031904	0.97[EUR][1000 genomes]
rs17027682	0.90[EUR][1000 genomes]
rs17027707	0.93[EUR][1000 genomes]
rs17027758	1.00[EUR][1000 genomes]
rs1919212	0.90[EUR][1000 genomes]
rs28372028	0.86[EUR][1000 genomes]
rs28502504	0.90[EUR][1000 genomes]
rs28504661	0.90[EUR][1000 genomes]
rs28532945	0.86[EUR][1000 genomes]
rs28576181	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs28635613	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28648419	0.90[EUR][1000 genomes]
rs28696298	0.86[EUR][1000 genomes]
rs28712025	0.90[EUR][1000 genomes]
rs28758777	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72902292	0.90[EUR][1000 genomes]
rs9990571	0.90[EUR][1000 genomes]
rs9991086	0.90[EUR][1000 genomes]
rs9993039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
3	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
4	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:99485000-99490800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
9	chr4:99485400-99491000	Enhancers	Fetal Brain Male	brain
10	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:99485600-99489200	Enhancers	Fetal Heart	heart
12	chr4:99486000-99488800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:99486000-99489000	Enhancers	Ovary	ovary
14	chr4:99486000-99489200	Enhancers	Fetal Thymus	thymus
15	chr4:99486000-99491000	Enhancers	Thymus	Thymus
16	chr4:99486000-99491400	Enhancers	Fetal Muscle Leg	muscle
17	chr4:99486600-99488600	Enhancers	Fetal Stomach	stomach
18	chr4:99487000-99488800	Enhancers	NHDF-Ad	bronchial
19	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:99487400-99495000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:99487600-99490200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:99487600-99492200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:99487800-99490000	Weak transcription	Fetal Kidney	kidney
24	chr4:99487800-99490000	Weak transcription	Osteobl	bone
25	chr4:99487800-99491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:99487800-99492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:99487800-99498600	Weak transcription	NHLF	lung
28	chr4:99488000-99490000	Weak transcription	Esophagus	oesophagus
29	chr4:99488000-99490000	Weak transcription	Fetal Intestine Large	intestine
30	chr4:99488000-99492000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:99488000-99492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:99488000-99495200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:99488000-99495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:99488000-99495400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:99488000-99499000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:99488000-99499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:99488200-99489000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:99488200-99489000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:99488200-99489000	Enhancers	Brain Germinal Matrix	brain
40	chr4:99488200-99489200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:99488200-99489400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:99488200-99489600	Weak transcription	Placenta	Placenta
43	chr4:99488200-99489800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:99488200-99489800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:99488200-99490000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:99488200-99490000	Weak transcription	Right Atrium	heart
47	chr4:99488200-99490000	Weak transcription	Right Ventricle	heart
48	chr4:99488200-99490000	Weak transcription	Spleen	Spleen
49	chr4:99488200-99490000	Weak transcription	HSMM	muscle
50	chr4:99488200-99490400	Weak transcription	Fetal Brain Female	brain

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